ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA119953
Gene: SCNN1G
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001030.2:p.Gly183Ser
CA119952
NM_001039.4:c.547G>A