ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645404058
Gene: SCNN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000337730
RCV000400458
ClinVar Variation:
310134
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001029.1:p.Gly520Ala
CA6405774
NM_001038.6:c.1559G>C