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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:
CA2573136496
Gene: RHO
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1601735
ClinVar RCV Id:
RCV002127469
dbSNP Id:
rs749155432
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.129532431dup , CM000665.2:g.129532431dup
GRCh38
NC_000003.11:g.129251274dup , CM000665.1:g.129251274dup
GRCh37
NC_000003.10:g.130733964dup
NCBI36
NG_009115.1:g.8793dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000296271.4:c.696+15dup
MANE Select
ENSP00000296271.3:n.696+15dup
ENST00000296271.3:c.696+15dup
ENSP00000296271.3:n.696+15dup
NM_000539.3:c.696+15dup
MANE Select
NP_000530.1:n.696+15dup
Search 100 bp 5'
Search 100 bp 3'