Canonical Allele Identifier: PA2827138120
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 142635
ClinVar RCV Id: RCV000131960 RCV000168413 RCV000223568 RCV000662631 RCV001193253 RCV003998124
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308944.1:p.Ser391Leu
CA009752
NM_001322015.1:c.1172C>T