ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658818748
Gene: ELN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265868.1:p.Val588Ile
CA4293156
NM_001278939.2:c.1762G>A