ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580231751
Gene: SPTB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1694102
ClinVar RCV Id:
RCV002261971
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001342366.1:p.Ala2018Asp
CA390039527
NM_001355437.2:c.6053C>A