ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA120178
Gene: ACADSB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9202
ClinVar RCV Id:
RCV000009780
RCV000389934
RCV002512950
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001600.1:p.Thr148Ile
CA120176
NM_001609.3:c.443C>T