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: PA2827123427

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1504952

ClinVar RCV Id: RCV002047937 RCV002458980

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308938.1:p.Gly247Arg	CA042158 NM_001322009.2:c.739G>C