ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916010638
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
360661
ClinVar RCV Id:
RCV000311994
RCV000369053
RCV000443075
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265868.1:p.Pro755Ser
CA4293372
NM_001278939.2:c.2263C>T