Canonical Allele Identifier: PA093595
Gene: SCNN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 8844
ClinVar RCV Id: RCV000009392 RCV000175586 RCV000713389 RCV001120418 RCV001120419 RCV003914823
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000327.2:p.Ser82Cys
CA119969
NM_000336.3:c.245C>G