ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828050368
Gene: SPTB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2225104
ClinVar RCV Id:
RCV002683725
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001342365.1:p.Glu1755Lys
CA262689334
NM_001355436.2:c.5263G>A