ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916010626
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
360659
ClinVar RCV Id:
RCV000281338
RCV000338747
RCV001579838
RCV004544696
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265868.1:p.Ala683Thr
CA4293267
NM_001278939.2:c.2047G>A