ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825482135
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
524219
ClinVar RCV Id:
RCV000627827
RCV000762455
RCV000765973
RCV002533162
RCV004533301
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001075222.1:p.Val545Ile
CA4293156
NM_001081753.3:c.1633G>A