Canonical Allele Identifier: PA2826624264
Gene: SMC1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2864811
ClinVar RCV Id: RCV003626067

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268392.1:p.Ser1124Arg
CA413242754
NM_001281463.1:c.3372C>G
CA413242755
NM_001281463.1:c.3372C>A
CA413243228
NM_001281463.1:c.3370A>C