ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA097995
Gene: EARS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
265109
ClinVar RCV Id:
RCV000254773
RCV000763375
RCV003156088
RCV003235167
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077083.1:p.Arg516Gln
CA7962247
NM_001083614.1:c.1547G>A