Canonical Allele Identifier: PA2826624240
Gene: SMC1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1057501
ClinVar RCV Id: RCV001366494
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268392.1:p.Ser1054Phe
CA413244141
NM_001281463.1:c.3161C>T