ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827654772
Gene: ACBD5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339498.1:p.Pro334Gln
CA5450774
NM_001352569.1:c.1001C>A