ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000294
Gene: SMAD6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005576.3:p.Ser296Phe
CA7626637
NM_005585.5:c.887C>T