ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA322485
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213175
ClinVar RCV Id:
RCV000198008
RCV000279620
RCV000334634
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000492.2:p.Pro220Leu
CA322484
NM_000501.4:c.659C>T