ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825932707
Gene: SCNN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
310148
ClinVar RCV Id:
RCV000330908
RCV000387793
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153047.1:p.Gly299Cys
CA6406100
NM_001159575.2:c.895G>T