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: PA2827137685

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 663106

ClinVar RCV Id: RCV000820908

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308944.1:p.Gly279Ser	CA366742718 NM_001322015.1:c.835G>A