ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658818828
Gene: EPRS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
523137
ClinVar RCV Id:
RCV000626410
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004437.2:p.Met1126Thr
CA344637183
NM_004446.3:c.3377T>C