ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658679570
Gene: SCNN1G
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000519048
RCV000764039
ClinVar Variation:
451433
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001030.2:p.Met517Thr
CA7959909
NM_001039.4:c.1550T>C