Canonical Allele Identifier: PA916026233
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 127780
ClinVar RCV Id: RCV000115684 RCV000206341 RCV000212871 RCV000411108 RCV000515369 RCV001355417 RCV000759201 RCV003415891 RCV003149800
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308943.1:p.Asp795Asn
CA011325
NM_001322014.1:c.2383G>A