ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826617620
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_001265847.1:p.Ala100Thr
CA4292446
NM_001278918.2:c.298G>A