ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825481721
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
360658
ClinVar RCV Id:
RCV000285328
RCV000381857
RCV001556564
RCV004022054
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001075221.1:p.Leu580Phe
CA4293244
NM_001081752.3:c.1738C>T