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: PA2827123658

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1757064

ClinVar RCV Id: RCV002365155

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308938.1:p.Lys278dup	CA4150118 NM_001322009.2:c.832_834dup