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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:
CA1401213224
Gene: RHO
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.129533648_129533650delinsACC , CM000665.2:g.129533648_129533650delinsACC
GRCh38
NC_000003.11:g.129252491_129252493delinsACC , CM000665.1:g.129252491_129252493delinsACC
GRCh37
NC_000003.10:g.130735181_130735183delinsACC
NCBI36
NG_009115.1:g.10010_10012delinsACC
Transcript Alleles
HGVS
Amino-acid change
ENST00000296271.4:c.977_979delinsACC
MANE Select
ENSP00000296271.3:p.Asn326=
ENST00000296271.3:c.977_979delinsACC
ENSP00000296271.3:p.Asn326=
NM_000539.3:c.977_979delinsACC
MANE Select
NP_000530.1:p.Asn326=
Search 100 bp 5'
Search 100 bp 3'