ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658813193
Gene: GARS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
543210
ClinVar RCV Id:
RCV000653899
RCV003320720
RCV004025922
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002038.2:p.Val595Ala
CA4206072
NM_002047.4:c.1784T>C