ClinGen Allele Registry
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Canonical Allele Identifier:
PA3057530204
Gene: ELN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265868.1:p.Leu526_Gly537del
CA4293067
NM_001278939.2:c.1551_1586del
CA4293071
NM_001278939.2:c.1575_1610del