ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741922647
Gene: SMAD6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2913986
ClinVar RCV Id:
RCV003649050
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005576.3:p.Leu360Val
CA393201815
NM_005585.5:c.1078C>G