ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826616617
Gene: ELN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000281338
RCV000338747
RCV001579838
RCV004544696
ClinVar Variation:
360659
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265844.1:p.Ala627Thr
CA4293267
NM_001278915.2:c.1879G>A