Canonical Allele Identifier: PA2827114193
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 455692
ClinVar RCV Id: RCV000545520 RCV000758691 RCV001014799
ClinVar Variation Id: 486943
ClinVar RCV Id: RCV000564836 RCV000630233 RCV001545463 RCV003465282 RCV004001202
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308935.1:p.Gly74Arg
CA366744818
NM_001322006.2:c.220G>A
CA366744819
NM_001322006.2:c.220G>C