ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828484079
Gene: MRPS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
523225
ClinVar RCV Id:
RCV000626473
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358330.1:p.Arg138His
CA5323934
NM_001371401.1:c.413G>A