Canonical Allele Identifier: PA2827123044
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 230824
ClinVar RCV Id: RCV000214480 RCV000233535 RCV000485778 RCV001532968 RCV003997862
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308937.1:p.Gly374Ala
CA10578676
NM_001322008.2:c.1121G>C