ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825481668
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
423742
ClinVar RCV Id:
RCV000478684
RCV002470874
RCV002526957
RCV002525947
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001075221.1:p.Val484Ile
CA4293089
NM_001081752.3:c.1450G>A