ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091049
Gene: ACADVL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000020081
RCV000077925
RCV001807006
RCV002513135
ClinVar Variation:
21025
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000009.1:p.Val283Ala
CA285294
NM_000018.4:c.848T>C