ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645500021
Gene: AARS1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000235750
RCV001089010
RCV001118435
ClinVar Variation:
246158
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001596.2:p.Ser494Ile
CA8140806
NM_001605.3:c.1481G>T