ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658818851
Gene: EPS8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
500289
ClinVar RCV Id:
RCV000592406
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004438.3:p.Lys608Gln
CA6467431
NM_004447.6:c.1822A>C