ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580333405
Gene: SMAD6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1744530
ClinVar RCV Id:
RCV002342902
RCV003102668
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005576.3:p.His339Leu
CA7626708
NM_005585.5:c.1016A>T