ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825481782
Gene: ELN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000036527
RCV000323541
RCV000553879
RCV001528254
ClinVar Variation:
43585
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001075221.1:p.Gly664Asp
CA132763
NM_001081752.3:c.1991G>A