ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580178012
Gene: ACADVL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1928971
ClinVar RCV Id:
RCV002642263
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257376.1:p.Pro648Thr
CA287441389
NM_001270447.2:c.1942C>A