Canonical Allele Identifier: PA2580339070
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_006297.2:p.Pro603Leu
CA413253056
NM_006306.4:c.1808C>T