ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3081992216
Gene: SMAD6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005576.3:p.Pro415Gln
CA393202156
NM_005585.5:c.1244C>A