ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828050503
Gene: SPTB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12837
ClinVar RCV Id:
RCV000013688
RCV001004906
RCV002513020
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001342365.1:p.Ser2019Pro
CA122740
NM_001355436.2:c.6055T>C