ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093535
Gene: SCNN1B
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000009386
RCV002496312
ClinVar Variation:
8838
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000327.2:p.Pro267Leu
CA119964
NM_000336.3:c.800C>T