ClinGen Allele Registry
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Canonical Allele Identifier:
PA097980
Gene: EARS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000033009
RCV000255688
RCV000622765
RCV000626746
RCV003156066
ClinVar Variation:
39787
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077083.1:p.Arg108Trp
CA130557
NM_001083614.1:c.322C>T