Canonical Allele Identifier: PA2827133526
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 135065
ClinVar RCV Id: RCV000121840 RCV000515611 RCV000860105 RCV001789176 RCV003997355
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308942.1:p.Lys350Glu
CA044701
NM_001322013.1:c.1048A>G