ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826515993
Gene: ACADVL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2131890
ClinVar RCV Id:
RCV003036475
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257377.1:p.Val250Phe
CA397724084
NM_001270448.2:c.748G>T