ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645453105
Gene: SPTB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
313723
ClinVar RCV Id:
RCV000283035
RCV000375251
RCV003546516
RCV003338569
RCV003910181
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001020029.1:p.Pro1613Ser
CA7230185
NM_001024858.4:c.4837C>T