Canonical Allele Identifier: PA2827138240
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 127763
ClinVar RCV Id: RCV000115661 RCV000121851 RCV000662627 RCV000656949 RCV001357983 RCV002279936 RCV003389689 RCV001082540 RCV003149798
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308944.1:p.Ser420Thr
CA009875
NM_001322015.1:c.1258T>A