ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825337014
Gene: SPTB
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000655908
RCV003133483
RCV003432719
ClinVar Variation:
544811
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001020029.1:p.Arg216Gln
CA390031881
NM_001024858.4:c.647G>A