×
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:
CA2758364174
Gene: RHO
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.129531937_129532170del , CM000665.2:g.129531937_129532170del
GRCh38
NC_000003.11:g.129250780_129251013del , CM000665.1:g.129250780_129251013del
GRCh37
NC_000003.10:g.130733470_130733703del
NCBI36
NG_009115.1:g.8299_8532del
Transcript Alleles
HGVS
Amino-acid change
ENST00000296271.4:c.531-314_531-81del
MANE Select
ENSP00000296271.3:n.531-314_531-81del
ENST00000296271.3:c.531-314_531-81del
ENSP00000296271.3:n.531-314_531-81del
NM_000539.3:c.531-314_531-81del
MANE Select
NP_000530.1:n.531-314_531-81del
Search 100 bp 5'
Search 100 bp 3'