ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828050511
Gene: SPTB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
522602
ClinVar RCV Id:
RCV000625738
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001342365.1:p.Leu2032Pro
CA390039437
NM_001355436.2:c.6095T>C