Canonical Allele Identifier: PA916000318
Gene: SMAD6 HGNC NCBI

Linked Data

ClinVar Variation Id: 640191
ClinVar RCV Id: RCV000793162
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005576.3:p.Val334Leu
CA7626704
NM_005585.5:c.1000G>C
CA393201649
NM_005585.5:c.1000G>T