ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916010631
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213166
ClinVar RCV Id:
RCV000405378
RCV000351619
RCV001579602
RCV004530153
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265868.1:p.Pro729Ser
CA321710
NM_001278939.2:c.2185C>T