ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573197744
Gene: MRPS34
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001287829.1:p.Glu195Lys
CA394242583
NM_001300900.2:c.583G>A