ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139753149
Gene: CARS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078813.1:p.Val390Ile
CA7051889
NM_024537.3:c.1168G>A