Canonical Allele Identifier: PA645506963
Gene: SCNN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 229239
ClinVar RCV Id: RCV000220161 RCV000402338 RCV000344774 RCV000305202 RCV000901498 RCV003937856
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000327.2:p.Ala569Val
CA7960616
NM_000336.3:c.1706C>T