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: PA2827116448

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1785975

ClinVar RCV Id: RCV002424287

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308935.1:p.Ala650Asp	CA366737986 NM_001322006.2:c.1949C>A