Canonical Allele Identifier: PA2827135759
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 127752
ClinVar RCV Id: RCV000115648 RCV000411537 RCV000458229 RCV000565848 RCV003997283
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308943.1:p.Glu347Asp
CA009125
NM_001322014.1:c.1041G>C
CA366742929
NM_001322014.1:c.1041G>T