ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645506953
Gene: SCNN1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
318422
ClinVar RCV Id:
RCV000293856
RCV000352207
RCV000388075
RCV001171907
RCV003940245
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000327.2:p.Arg156Trp
CA7960155
NM_000336.3:c.466C>T