ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658661981
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213192
ClinVar RCV Id:
RCV000531891
RCV000728083
RCV000765972
RCV001161674
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265868.1:p.Gly216Val
CA324493
NM_001278939.2:c.647G>T