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: PA2827105471

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2751318

ClinVar RCV Id: RCV003593711

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308933.1:p.Leu242Met	CA366742748 NM_001322004.2:c.724C>A