ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830368297
Gene: ELAC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001904552
RCV002489990
ClinVar Variation:
1359788
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_776065.1:p.Glu621Gly
CA8401040
NM_173717.2:c.1862A>G