ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658812364
Gene: EHHADH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
501017
ClinVar RCV Id:
RCV000594486
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001957.2:p.Val675Ile
CA355675515
NM_001966.4:c.2023G>A