Canonical Allele Identifier: PA2826624036
Gene: SMC1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2115433
ClinVar RCV Id: RCV003046455
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268392.1:p.Pro581Leu
CA413253056
NM_001281463.1:c.1742C>T