ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826617478
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2490329
ClinVar RCV Id:
RCV003215275
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265846.1:p.Ala588Pro
CA367889272
NM_001278917.2:c.1762G>C