ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573074801
Gene: KARS1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000210691
RCV000681462
RCV000986183
RCV001265601
RCV001293661
RCV001293662
RCV001526444
RCV001775672
RCV002463662
RCV003147413
ClinVar Variation:
224983
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365077.1:p.Pro44Leu
CA358202
NM_001378148.1:c.131C>T