ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913196966
Gene: MRPS14
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071383.1:p.Arg108Cys
CA32812618
NM_022100.3:c.322C>T