ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573243784
Gene: SMAD6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1359117
ClinVar RCV Id:
RCV001872183
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005576.3:p.Trp331delinsSerArg
CA2573151066
NM_005585.5:c.991_992insCAC