ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826453769
Gene: HARS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244971.1:p.Arg172Cys
CA247145
NM_001258042.3:c.514C>T