ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA094935
Gene: SPTB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000338.3:p.Leu2025Arg
CA122743
NM_000347.5:c.6074T>G