ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826614511
Gene: HARS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000032820
RCV002468984
RCV002513308
ClinVar Variation:
39620
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265660.1:p.Leu175Val
CA343806
NM_001278731.2:c.523C>G