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: PA2827122821

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 411076

ClinVar RCV Id: RCV000472222 RCV000574931 RCV004001882

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308937.1:p.Leu348Pro	CA043156 NM_001322008.2:c.1043T>C