ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916002692
Gene: ACADVL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
474886
ClinVar RCV Id:
RCV000531461
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257376.1:p.Thr487Ile
CA397725017
NM_001270447.2:c.1460C>T