ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645404008
Gene: SCNN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
310142
ClinVar RCV Id:
RCV000350992
RCV000395520
RCV003727659
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001029.1:p.Glu358Gly
CA6405996
NM_001038.6:c.1073A>G