ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825481712
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2490329
ClinVar RCV Id:
RCV003215275
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001075221.1:p.Ala569Pro
CA367889272
NM_001081752.3:c.1705G>C