ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645453109
Gene: SPTB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
313717
ClinVar RCV Id:
RCV000284990
RCV000391797
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001020029.1:p.Ala1752Gly
CA7230014
NM_001024858.4:c.5255C>G