ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826593817
Gene: ETFDH
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001381020
ClinVar Variation:
242522
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268666.1:p.Leu449Pro
CA351297
NM_001281737.2:c.1346T>C