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: PA2827103295

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 141163

ClinVar RCV Id: RCV000129553 RCV000696062 RCV000765967 RCV001753510 RCV003460895 RCV003997509

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308933.1:p.Thr30Ile	CA012165 NM_001322004.2:c.89C>T