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: PA2827114548

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 525828

ClinVar RCV Id: RCV000630166 RCV001186067

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308935.1:p.Pro167Arg	CA366744228 NM_001322006.2:c.500C>G