ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA239855
Gene: ETFDH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194057
ClinVar RCV Id:
RCV000174333
RCV000275519
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004444.2:p.Asp511Asn
CA239854
NM_004453.4:c.1531G>A