Canonical Allele Identifier: PA2573250306
Gene: SMC1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1406869

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006297.2:p.Arg468Gln
CA413255660
NM_006306.4:c.1403G>A