ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828648161
Gene: BBOX1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV004112182
ClinVar Variation:
2253676
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001363187.1:p.Asp336Val
CA380068424
NM_001376258.1:c.1007A>T