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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:
CA1401205498
Gene: RHO
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.129528905_129528906delinsAC , CM000665.2:g.129528905_129528906delinsAC
GRCh38
NC_000003.11:g.129247748_129247749delinsAC , CM000665.1:g.129247748_129247749delinsAC
GRCh37
NC_000003.10:g.130730438_130730439delinsAC
NCBI36
NG_009115.1:g.5267_5268delinsAC
Transcript Alleles
HGVS
Amino-acid change
ENST00000296271.4:c.172_173delinsAC
MANE Select
ENSP00000296271.3:p.Thr58=
ENST00000296271.3:c.172_173delinsAC
ENSP00000296271.3:p.Thr58=
NM_000539.3:c.172_173delinsAC
MANE Select
NP_000530.1:p.Thr58=
Search 100 bp 5'
Search 100 bp 3'