ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645453163
Gene: SPTB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
313702
ClinVar RCV Id:
RCV000349988
RCV000403325
RCV003137916
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001020029.1:p.Arg2079His
CA7229718
NM_001024858.4:c.6236G>A