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: PA2827138921

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1785975

ClinVar RCV Id: RCV002424287

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308944.1:p.Ala599Asp	CA366737986 NM_001322015.1:c.1796C>A