ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580308956
Gene: CYP8B1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV004180346
ClinVar Variation:
2338033
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004382.2:p.Ala126Thr
CA352300484
NM_004391.3:c.376G>A