Canonical Allele Identifier: PA2827128839
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 187347
ClinVar RCV Id: RCV000167069 RCV000226423 RCV000454673 RCV001753568 RCV003995554
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308940.1:p.Ser144Phe
CA009556
NM_001322011.2:c.431C>T