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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:
CA1401211342
Gene: RHO
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.129532425_129532426delinsCG , CM000665.2:g.129532425_129532426delinsCG
GRCh38
NC_000003.11:g.129251268_129251269delinsCG , CM000665.1:g.129251268_129251269delinsCG
GRCh37
NC_000003.10:g.130733958_130733959delinsCG
NCBI36
NG_009115.1:g.8787_8788delinsCG
Transcript Alleles
HGVS
Amino-acid Change
ENST00000296271.4:c.696+9_696+10delinsCG
MANE Select
ENSP00000296271.3:n.696+9_696+10delinsCG
ENST00000296271.3:c.696+9_696+10delinsCG
ENSP00000296271.3:n.696+9_696+10delinsCG
NM_000539.3:c.696+9_696+10delinsCG
MANE Select
NP_000530.1:n.696+9_696+10delinsCG
Search 100 bp 5'
Search 100 bp 3'