Canonical Allele Identifier: PA2827131664
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1692461
ClinVar RCV Id: RCV002257216 RCV002300661
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308941.1:p.Asp383His
CA366738042
NM_001322012.1:c.1147G>C