Canonical Allele Identifier: PA2573088187
Gene: SMC1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1314441
ClinVar RCV Id: RCV001772950

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006297.2:p.Ser657Arg
CA413252423
NM_006306.4:c.1971T>G
CA413252424
NM_006306.4:c.1971T>A
CA413252431
NM_006306.4:c.1969A>C