Canonical Allele Identifier: PA891864083
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 233518
ClinVar RCV Id: RCV000220384 RCV000549401 RCV000780615 RCV000985901 RCV003998560
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000526.2:p.Asp48Asn
CA043487
NM_000535.7:c.142G>A