ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830368415
Gene: ELAC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002029941
ClinVar Variation:
1346303
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_776065.1:p.Arg780Leu
CA398222264
NM_173717.2:c.2339G>T