ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830368283
Gene: ELAC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
474562
ClinVar RCV Id:
RCV000786127
RCV000541060
RCV003993669
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_776065.1:p.Gln593Glu
CA398223543
NM_173717.2:c.1777C>G