ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916021001
Gene: EARS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
522736
ClinVar RCV Id:
RCV000625893
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001295140.1:p.Leu264Val
CA395133422
NM_001308211.1:c.790C>G