ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658818746
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
524221
ClinVar RCV Id:
RCV000627829
RCV002252183
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265868.1:p.Pro475Leu
CA4292993
NM_001278939.2:c.1424C>T