ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828050232
Gene: SPTB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1326902
ClinVar RCV Id:
RCV001787287
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001342365.1:p.Gly1507Val
CA390044081
NM_001355436.2:c.4520G>T