ClinGen Allele Registry
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Canonical Allele Identifier:
PA645500087
Gene: AARS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246063
ClinVar RCV Id:
RCV000236790
RCV000704888
RCV000765312
RCV002461032
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001596.2:p.Arg729Gln
CA8140522
NM_001605.3:c.2186G>A