Canonical Allele Identifier: PA645506970
Gene: SCNN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 318447
ClinVar RCV Id: RCV000297058 RCV000354087 RCV000399722 RCV002522834 RCV002520998
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000327.2:p.Asp634His
CA7960675
NM_000336.3:c.1900G>C