Canonical Allele Identifier: PA1139698801
Gene: GARS1 HGNC NCBI
ClinVar RCV:
RCV001201941
ClinVar Variation:
933677
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001303701.1:p.Arg49Ser
CA4205647
NM_001316772.1:c.147G>C
CA367139027
NM_001316772.1:c.147G>T