ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573197916
Gene: EARS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1462349
ClinVar RCV Id:
RCV001954236
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001295140.1:p.Ser306Cys
CA7962475
NM_001308211.1:c.917C>G