ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA239439
Gene: ACADVL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000173952
RCV000668844
RCV003927590
ClinVar Variation:
193786
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000009.1:p.Arg385Trp
CA239438
NM_000018.4:c.1153C>T