ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA323718
Gene: ELN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000492.2:p.Ala108Val
CA323717
NM_000501.4:c.323C>T