Allele Registry

Canonical Allele Identifier: PA104275

Gene: SMAD6 HGNC NCBI

ClinVar RCV:

RCV000030754

RCV003329236

ClinVar Variation:

37112

HGVS (amino-acid)	Matching Registered Transcripts
NP_005576.3:p.Pro415Leu	CA281908 NM_005585.5:c.1244C>T