Canonical Allele Identifier: PA2741931740
Gene: SMC1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2864811
ClinVar RCV Id: RCV003626067
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006297.2:p.Ser1146Arg
CA413242754
NM_006306.4:c.3438C>G
CA413242755
NM_006306.4:c.3438C>A
CA413243228
NM_006306.4:c.3436A>C