ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499267842
Gene: EPRS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004437.2:p.Ile1324Met
CA1399536
NM_004446.3:c.3972T>G