Canonical Allele Identifier: PA2827100268
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 127763
ClinVar RCV Id: RCV000115661 RCV000121851 RCV000662627 RCV000656949 RCV001357983 RCV002279936 RCV003389689 RCV001082540 RCV003149798
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308932.1:p.Ser388Thr
CA009875
NM_001322003.2:c.1162T>A