ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915985640
Gene: SCNN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
310149
ClinVar RCV Id:
RCV000295692
RCV000343569
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153048.1:p.Arg308Lys
CA6406118
NM_001159576.2:c.923G>A