ClinGen Allele Registry
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Canonical Allele Identifier:
PA233275
Gene: IARS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000144717
RCV000144956
RCV000601238
RCV000986556
ClinVar Variation:
156552
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060530.3:p.Glu708Lys
CA233274
NM_018060.4:c.2122G>A