ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573222273
Gene: GARS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002038.2:p.Ser423Phe
CA4205944
NM_002047.4:c.1268C>T