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: PA2827138917

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 411077

ClinVar RCV Id: RCV000477635 RCV002418417

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308944.1:p.His598Tyr	CA046594 NM_001322015.1:c.1792C>T