ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741866267
Gene: SPTB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2988949
ClinVar RCV Id:
RCV003847116
RCV004366959
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001342366.1:p.Arg1789His
CA262689089
NM_001355437.2:c.5366G>A