Canonical Allele Identifier: PA645506952
Gene: SCNN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 318421
ClinVar RCV Id: RCV000278132 RCV000318042 RCV000372576 RCV003736715
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000327.2:p.Ser143Phe
CA7960149
NM_000336.3:c.428C>T