ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828648162
Gene: BBOX1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV004088582
ClinVar Variation:
2223780
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001363187.1:p.Ile338Asn
CA5927706
NM_001376258.1:c.1013T>A