ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645475322
Gene: ACADVL
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000489971
RCV000675075
RCV003409673
ClinVar Variation:
426482
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000009.1:p.Ser583Trp
CA397725790
NM_000018.4:c.1748C>G