ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499237646
Gene: ACACB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001084.3:p.Val999Ile
CA6773852
NM_001093.4:c.2995G>A