Canonical Allele Identifier: PA2827133789
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3231987
ClinVar RCV Id: RCV004518702

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308942.1:p.Lys419Asn
CA366739689
NM_001322013.1:c.1257A>T
CA366739692
NM_001322013.1:c.1257A>C