ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA103241
Gene: ELAC2
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_060597.4:p.Arg781His
NM_018127.7:c.2342G>A