ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826614922
Gene: ELN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265841.1:p.Ala2Val
CA4292205
NM_001278912.2:c.5C>T