Canonical Allele Identifier: PA2827134015
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1509142
ClinVar RCV Id: RCV002017686

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308942.1:p.Met481Ile
CA366738180
NM_001322013.1:c.1443G>T
CA366738181
NM_001322013.1:c.1443G>C
CA366738182
NM_001322013.1:c.1443G>A