ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA312221
Gene: ACADS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
203556
ClinVar RCV Id:
RCV000185688
RCV000664591
RCV003993871
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000008.1:p.Arg272His
CA312220
NM_000017.4:c.815G>A