ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580405999
Gene: ELAC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061166.1:p.Arg179Cys
CA8965572
NM_018696.3:c.535C>T