ClinGen Allele Registry
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Canonical Allele Identifier:
PA916010583
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
360636
ClinVar RCV Id:
RCV000327769
RCV000382394
RCV000492857
RCV000984480
RCV004530459
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265842.1:p.Ala98Thr
CA4292446
NM_001278913.2:c.292G>A