ClinGen Allele Registry
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Canonical Allele Identifier:
PA891866452
Gene: SPTB
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000013691
RCV001004904
RCV003129752
ClinVar Variation:
12839
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001342366.1:p.Leu2025Arg
CA122743
NM_001355437.2:c.6074T>G