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: PA2827138039

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 135937

ClinVar RCV Id: RCV000123078 RCV000131575 RCV000479914 RCV001824617 RCV001775084 RCV003149840 RCV003997415

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308944.1:p.Ala371Ser	CA009651 NM_001322015.1:c.1111G>T