ClinGen Allele Registry
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Canonical Allele Identifier:
PA916017175
Gene: HARS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001276023.1:p.Arg99Cys
CA3444129
NM_001289094.1:c.295C>T