ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826616201
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
360661
ClinVar RCV Id:
RCV000311994
RCV000369053
RCV000443075
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265843.1:p.Pro669Ser
CA4293372
NM_001278914.2:c.2005C>T