ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645506187
Gene: EARS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077083.1:p.Asp223Asn
CA7962529
NM_001083614.1:c.667G>A