Canonical Allele Identifier: PA2827138948
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 411080
ClinVar RCV Id: RCV001014544 RCV002230441
ClinVar Variation Id: 1786330
ClinVar RCV Id: RCV002417707 RCV003098637 RCV003150566
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308944.1:p.Phe606Leu
CA16612211
NM_001322015.1:c.1818C>G
CA366737934
NM_001322015.1:c.1818C>A
CA366737939
NM_001322015.1:c.1816T>C