ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104264
Gene: SMAD6
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000030753
ClinVar Variation:
37111
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005576.3:p.Cys484Phe
CA281907
NM_005585.5:c.1451G>T