Canonical Allele Identifier: PA915985725
Gene: SCNN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 310132
ClinVar RCV Id: RCV000286142 RCV000343386 RCV003243065
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001153048.1:p.Arg648Gln
CA6405713
NM_001159576.2:c.1943G>A