ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916002470
Gene: ACADVL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
203589
ClinVar RCV Id:
RCV000185735
RCV000527513
RCV002519571
RCV003398921
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257376.1:p.Glu300del
CA312283
NM_001270447.2:c.898_900del