Canonical Allele Identifier: PA915985673
Gene: SCNN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 310142
ClinVar RCV Id: RCV000350992 RCV000395520 RCV003727659
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001153048.1:p.Glu417Gly
CA6405996
NM_001159576.2:c.1250A>G