ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826517084
Gene: ACADVL
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000525816
RCV001532300
RCV002248780
ClinVar Variation:
474894
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257377.1:p.Arg556Cys
CA8338308
NM_001270448.2:c.1666C>T