ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580333403
Gene: SMAD6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1750271
ClinVar RCV Id:
RCV002353538
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005576.3:p.Val334Met
CA393201648
NM_005585.5:c.1000G>A