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: PA2827116533

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 945119

ClinVar RCV Id: RCV001215677 RCV002429918

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308935.1:p.Ala673Glu	CA366737836 NM_001322006.2:c.2018C>A