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: PA2827135154

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 234669

ClinVar RCV Id: RCV000213923 RCV000699509 RCV001023516

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308943.1:p.His170Asn	CA10577350 NM_001322014.1:c.508C>A