ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826758472
Gene: HARS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001276022.1:p.Val157Leu
CA361253666
NM_001289093.1:c.469G>C