ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825481766
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000351619
RCV000405378
RCV001579602
RCV004530153
ClinVar Variation:
213166
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001075221.1:p.Pro638Ser
CA321710
NM_001081752.3:c.1912C>T