Canonical Allele Identifier: PA2827100292
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 233100
ClinVar RCV Id: RCV000217885 RCV000480867 RCV000630090 RCV000765956 RCV002271472 RCV003998027
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308932.1:p.Asp391Asn
CA10578673
NM_001322003.2:c.1171G>A