Canonical Allele Identifier: PA2827117279
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 135944
ClinVar RCV Id: RCV000129051 RCV000587642 RCV001080227 RCV001175360 RCV003492545
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308936.1:p.Leu60Pro
CA012179
NM_001322007.2:c.179T>C