ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825482934
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000281338
RCV000338747
RCV001579838
RCV004544696
ClinVar Variation:
360659
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001075224.1:p.Ala602Thr
CA4293267
NM_001081755.3:c.1804G>A