ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA320314
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213171
ClinVar RCV Id:
RCV000272510
RCV000462325
RCV001531043
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000492.2:p.Gly109Asp
CA320313
NM_000501.4:c.326G>A