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: PA2827134140

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2786328

ClinVar RCV Id: RCV003760014

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308942.1:p.Asp513Asn	CA366737978 NM_001322013.1:c.1537G>A