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: PA2827112019

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 822225

ClinVar RCV Id: RCV001017405 RCV001873294 RCV003461361

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308934.1:p.Leu242Pro	CA366742744 NM_001322005.2:c.725T>C