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: PA2827106454

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 216450

ClinVar RCV Id: RCV000197213 RCV000216807 RCV000487350 RCV001160657 RCV001192581 RCV003997027

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308933.1:p.His344Asp	CA043547 NM_001322004.2:c.1030C>G