Canonical Allele Identifier: PA2827119119
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 188248
ClinVar RCV Id: RCV000168211 RCV000220002 RCV003318558 RCV003995612
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308936.1:p.His528Arg
CA010440
NM_001322007.2:c.1583A>G