ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916002627
Gene: ACADVL
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000418569
RCV000652034
RCV003114240
ClinVar Variation:
92273
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257376.1:p.Ala448Thr
CA220191
NM_001270447.2:c.1342G>A