ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825932668
Gene: SCNN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000009852
ClinVar Variation:
9270
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153047.1:p.Arg104Cys
CA120276
NM_001159575.2:c.310C>T