Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2826516546

Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1632

ClinVar RCV Id: RCV000001699 RCV001731269 RCV003914796

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001257377.1:p.Phe382Leu	CA251907 NM_001270448.2:c.1144T>C CA397724980 NM_001270448.2:c.1146C>G CA397724981 NM_001270448.2:c.1146C>A