ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573283587
Gene: EPS8L2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_073609.2:p.Arg272Trp
CA5787274
NM_022772.4:c.814C>T