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: PA2827117276

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 490107

ClinVar RCV Id: RCV000580103 RCV003758855

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308936.1:p.Thr59Ala	CA366744240 NM_001322007.2:c.175A>G