ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580457440
Gene: EPS8L2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_073609.2:p.Ser169Asn
CA378965525
NM_022772.4:c.506G>A