ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826618260
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450301
ClinVar RCV Id:
RCV000521003
RCV001161669
RCV002525163
RCV001161668
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265868.1:p.Ala158Val
CA4292521
NM_001278939.2:c.473C>T