Allele Registry

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.

Canonical Allele Identifier: PA2827527749

Gene: RIMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1477725

ClinVar RCV Id: RCV002018812

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001337358.1:p.Arg633Gln	CA3886458 NM_001350429.2:c.1898G>A