×
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:
CA2758361659
Gene: RHO
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.129532418_129532533del , CM000665.2:g.129532418_129532533del
GRCh38
NC_000003.11:g.129251261_129251376del , CM000665.1:g.129251261_129251376del
GRCh37
NC_000003.10:g.130733951_130734066del
NCBI36
NG_009115.1:g.8780_8895del
Transcript Alleles
HGVS
Amino-acid change
ENST00000296271.4:c.696+2_697del
ENST00000296271.3:c.696+2_697del
NM_000539.3:c.696+2_697del
Search 100 bp 5'
Search 100 bp 3'