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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:
CA1401209121
Gene: RHO
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.129530828_129530829delinsTC , CM000665.2:g.129530828_129530829delinsTC
GRCh38
NC_000003.11:g.129249671_129249672delinsTC , CM000665.1:g.129249671_129249672delinsTC
GRCh37
NC_000003.10:g.130732361_130732362delinsTC
NCBI36
NG_009115.1:g.7190_7191delinsTC
Transcript Alleles
HGVS
Amino-acid change
ENST00000296271.4:c.362-48_362-47delinsTC
MANE Select
ENSP00000296271.3:n.362-48_362-47delinsTC
ENST00000296271.3:c.362-48_362-47delinsTC
ENSP00000296271.3:n.362-48_362-47delinsTC
NM_000539.3:c.362-48_362-47delinsTC
MANE Select
NP_000530.1:n.362-48_362-47delinsTC
Search 100 bp 5'
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