ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830368394
Gene: ELAC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_776065.1:p.His748Tyr
CA8400880
NM_173717.2:c.2242C>T