ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826616782
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000521003
RCV001161668
RCV001161669
RCV002525163
ClinVar Variation:
450301
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265845.1:p.Ala158Val
CA4292521
NM_001278916.2:c.473C>T