ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826617820
Gene: ELN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265847.1:p.Val414Met
CA4293082
NM_001278918.2:c.1240G>A