ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826008333
Gene: ELAC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000487244
ClinVar Variation:
423989
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159434.1:p.Pro260del
CA16620332
NM_001165962.2:c.777_779del