ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645500041
Gene: AARS1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000236958
RCV001203095
RCV002461030
ClinVar Variation:
245833
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001596.2:p.Ser555Ile
CA8140738
NM_001605.3:c.1664G>T