ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830390143
Gene: EIF6
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV004245842
ClinVar Variation:
2411787
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852131.1:p.Asp125Asn
CA9830912
NM_181466.3:c.373G>A