ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580420710
Gene: ELAC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2047438
ClinVar RCV Id:
RCV002904303
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060597.4:p.Asp774Asn
CA8400834
NM_018127.7:c.2320G>A