ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826616597
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2613731
ClinVar RCV Id:
RCV003384520
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265844.1:p.Ala603Val
CA367889266
NM_001278915.2:c.1808C>T