Canonical Allele Identifier: PA2827118951
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 418854
ClinVar RCV Id: RCV000483031 RCV000548259 RCV000561065 RCV001821390 RCV003470536 RCV004002274
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308936.1:p.Asp483His
CA16618498
NM_001322007.2:c.1447G>C