×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2758361862
Gene: RHO
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.129533425_129533581del , CM000665.2:g.129533425_129533581del
GRCh38
NC_000003.11:g.129252268_129252424del , CM000665.1:g.129252268_129252424del
GRCh37
NC_000003.10:g.130734958_130735114del
NCBI36
NG_009115.1:g.9787_9943del
Transcript Alleles
HGVS
Amino-acid change
ENST00000296271.4:c.937-183_937-27del
MANE Select
ENSP00000296271.3:n.937-183_937-27del
ENST00000296271.3:c.937-183_937-27del
ENSP00000296271.3:n.937-183_937-27del
NM_000539.3:c.937-183_937-27del
MANE Select
NP_000530.1:n.937-183_937-27del
Search 100 bp 5'
Search 100 bp 3'