ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA323818
Gene: HARS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_036340.1:p.Arg150Cys
NM_012208.4:c.448C>T