ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139736583
Gene: ELAC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060597.4:p.His749Tyr
CA8400880
NM_018127.7:c.2245C>T