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: PA2827125114

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1786112

ClinVar RCV Id: RCV002417489 RCV003098626

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308938.1:p.Asp569Tyr	CA366737979 NM_001322009.2:c.1705G>T