ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA103823
Gene: KARS1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000054526
RCV001775565
ClinVar Variation:
60753
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005539.1:p.Asp349Asn
CA144651
NM_005548.3:c.1045G>A