ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825353316
Gene: SCNN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000215836
RCV000280531
RCV000337981
RCV002518202
RCV002518203
ClinVar Variation:
229238
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001029.1:p.Leu406Ile
CA6405952
NM_001038.6:c.1216C>A