ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825482194
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_001075222.1:p.Ala623Thr
CA4293282
NM_001081753.3:c.1867G>A