Canonical Allele Identifier: PA2827124613
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 135066
ClinVar RCV Id: RCV000121841 RCV000129033 RCV000195850 RCV001164192 RCV001719888
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308938.1:p.Asn435Asp
CA010119
NM_001322009.2:c.1303A>G