Canonical Allele Identifier: PA2827128004
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 127780
ClinVar RCV Id: RCV000115684 RCV000206341 RCV000212871 RCV000411108 RCV000515369 RCV001355417 RCV000759201 RCV003415891 RCV003149800
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308939.1:p.Asp597Asn
CA011325
NM_001322010.2:c.1789G>A