Canonical Allele Identifier: PA2826517161
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1707703
ClinVar RCV Id: RCV002286682

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001257377.1:p.Phe579_Ter580insArgIleLeuProAlaArgAlaCysProSerTyrValProSerLeuLysProLysProLysProLeuSerLeuArgProTrpPheValProLysGlyProSerValProSerThrValProAlaLeuLysSerThrTyrCysLeuAlaAsnAsnLysAsnPhe
CA397726272
NM_001270448.2:c.1738T>C
CA397726273
NM_001270448.2:c.1738T>A