ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825481748
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
360660
ClinVar RCV Id:
RCV000298998
RCV000407993
RCV001198806
RCV004544697
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001075221.1:p.Ala608Thr
CA4293282
NM_001081752.3:c.1822G>A