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: PA2573199526

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1520032

ClinVar RCV Id: RCV002043847

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308944.1:p.Pro64Ala	CA366744231 NM_001322015.1:c.190C>G