ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645479149
Gene: SMAD3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005893.1:p.Arg243Cys
CA10587874
NM_005902.4:c.727C>T