ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741919622
Gene: SMC3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005436.1:p.Ala482Glu
CA5687971
NM_005445.4:c.1445C>A