ClinGen Allele Registry
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Canonical Allele Identifier:
PA645407464
Gene: SMAD6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
413448
ClinVar RCV Id:
RCV000474525
RCV001584176
RCV002356726
RCV003230507
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005576.3:p.Asp21Asn
CA7626420
NM_005585.5:c.61G>A