ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828592484
Gene: EML1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000954983
RCV003926016
ClinVar Variation:
774911
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362341.1:p.His705Arg
CA7342904
NM_001375412.1:c.2114A>G