ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA119955
Gene: SCNN1G
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8829
ClinVar RCV Id:
RCV000009377
RCV000388570
RCV000250994
RCV000334111
RCV000713392
RCV002490346
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001030.2:p.Glu197Lys
CA119954
NM_001039.4:c.589G>A