ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915985618
Gene: SCNN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000009850
RCV001762041
ClinVar Variation:
9268
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153048.1:p.Val173Ile
CA120273
NM_001159576.2:c.517G>A