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: PA2827565832

Gene: KRIT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3116286

ClinVar RCV Id: RCV004412150

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001337621.1:p.Asn399Asp	CA368150886 NM_001350692.1:c.1195A>G