ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825481722
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
226631
ClinVar RCV Id:
RCV000221492
RCV000417622
RCV000342594
RCV000376205
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001075221.1:p.Gly581Ser
CA4293247
NM_001081752.3:c.1741G>A