ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916043791
Gene: HARS2
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001350465.1:p.Arg80Cys
NM_001363536.2:c.238C>T