Canonical Allele Identifier: PA2827129730
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 480350
ClinVar RCV Id: RCV000569372 RCV000630098
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308940.1:p.Ile377Leu
CA366738079
NM_001322011.2:c.1129A>T
CA366738080
NM_001322011.2:c.1129A>C