ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915969804
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213175
ClinVar RCV Id:
RCV000198008
RCV000279620
RCV000334634
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001075223.1:p.Pro225Leu
CA322484
NM_001081754.3:c.674C>T