ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825932754
Gene: SCNN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
310134
ClinVar RCV Id:
RCV000337730
RCV000400458
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153047.1:p.Gly543Ala
CA6405774
NM_001159575.2:c.1628G>C