Canonical Allele Identifier: PA2827121507
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41718
ClinVar RCV Id: RCV000034634 RCV000165656 RCV000231924 RCV000412437 RCV001290448
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308937.1:p.Leu130Phe
CA012634
NM_001322008.2:c.390G>T
CA366743793
NM_001322008.2:c.390G>C