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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1401210676
Gene: RHO
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.129532104_129532112delinsCCATCCTGT , CM000665.2:g.129532104_129532112delinsCCATCCTGT
GRCh38
NC_000003.11:g.129250947_129250955delinsCCATCCTGT , CM000665.1:g.129250947_129250955delinsCCATCCTGT
GRCh37
NC_000003.10:g.130733637_130733645delinsCCATCCTGT
NCBI36
NG_009115.1:g.8466_8474delinsCCATCCTGT
Transcript Alleles
HGVS
Amino-acid change
ENST00000296271.4:c.531-147_531-139delinsCCATCCTGT
MANE Select
ENSP00000296271.3:n.531-147_531-139delinsCCATCCTGT
ENST00000296271.3:c.531-147_531-139delinsCCATCCTGT
ENSP00000296271.3:n.531-147_531-139delinsCCATCCTGT
NM_000539.3:c.531-147_531-139delinsCCATCCTGT
MANE Select
NP_000530.1:n.531-147_531-139delinsCCATCCTGT
Search 100 bp 5'
Search 100 bp 3'