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: PA2827133664

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 231764

ClinVar RCV Id: RCV000216140 RCV001322223

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308942.1:p.Lys386Gln	CA10578663 NM_001322013.1:c.1156A>C