ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741957072
Gene: MRPS16
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2970745
ClinVar RCV Id:
RCV003824447
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057149.1:p.Arg74Cys
CA377192985
NM_016065.3:c.220C>T