Canonical Allele Identifier: PA2827133249
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 135937
ClinVar RCV Id: RCV000123078 RCV000131575 RCV000479914 RCV001824617 RCV001775084 RCV003149840 RCV003997415
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308942.1:p.Ala283Ser
CA009651
NM_001322013.1:c.847G>T