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: PA2825189055

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2883889

ClinVar RCV Id: RCV003759612

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000526.2:p.Thr37Ser	CA366745045 NM_000535.7:c.110C>G CA366745047 NM_000535.7:c.109A>T