ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828049627
Gene: SPTB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
544811
ClinVar RCV Id:
RCV000655908
RCV003133483
RCV003432719
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001342365.1:p.Arg216Gln
CA390031881
NM_001355436.2:c.647G>A