ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826617196
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450301
ClinVar RCV Id:
RCV000521003
RCV001161669
RCV002525163
RCV001161668
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265846.1:p.Ala148Val
CA4292521
NM_001278917.2:c.443C>T