ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645506960
Gene: SCNN1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
318440
ClinVar RCV Id:
RCV000294815
RCV000317498
RCV000372180
RCV002520996
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000327.2:p.Arg505His
CA7960554
NM_000336.3:c.1514G>A