ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA093509
Gene: SCNN1B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000327.2:p.Glu539Lys
CA119966
NM_000336.3:c.1615G>A