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: PA916025512

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 141660

ClinVar RCV Id: RCV000130264 RCV000228325 RCV000484647 RCV000662593 RCV003998049

ClinVar Variation Id: 644040

ClinVar RCV Id: RCV000797877 RCV001017239

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308943.1:p.Ser36Arg	CA009161 NM_001322014.1:c.106A>C CA366745049 NM_001322014.1:c.108C>G CA366745050 NM_001322014.1:c.108C>A