Canonical Allele Identifier: PA916025573
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 216456
ClinVar RCV Id: RCV000199747 RCV001015438 RCV003468908 RCV003997028
ClinVar Variation Id: 492275
ClinVar RCV Id: RCV000582270 RCV000663328 RCV000690673 RCV004002367
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308943.1:p.Phe80Leu
CA048060
NM_001322014.1:c.240C>G
CA366744767
NM_001322014.1:c.240C>A
CA366744771
NM_001322014.1:c.238T>C