ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3083953751
Gene: ELAC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060597.4:p.Ala541Pro
CA398223904
NM_018127.7:c.1621G>C