Canonical Allele Identifier: PA2827127000
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 185185
ClinVar RCV Id: RCV000164554 RCV000200307 RCV000411039 RCV000486349 RCV000515358 RCV000781744 RCV001798585 RCV003338434 RCV003995349
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308939.1:p.Ala333Val
CA009861
NM_001322010.2:c.998C>T