ClinGen Allele Registry
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Canonical Allele Identifier:
PA916010588
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213171
ClinVar RCV Id:
RCV000272510
RCV000462325
RCV001531043
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265847.1:p.Gly99Asp
CA320313
NM_001278918.2:c.296G>A