ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA204620
Gene: SMC3
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_005436.1:p.His917Pro
NM_005445.4:c.2750A>C