ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580420718
Gene: ELAC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1909921
ClinVar RCV Id:
RCV002600549
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060597.4:p.Arg797Lys
CA288074996
NM_018127.7:c.2390G>A