ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826615648
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_001265842.1:p.Val432Ile
CA4293089
NM_001278913.2:c.1294G>A