ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826616674
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_001265844.1:p.Gly717Asp
CA132763
NM_001278915.2:c.2150G>A