ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828124292
Gene: MRPS22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3209050
ClinVar RCV Id:
RCV004504926
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350786.1:p.Leu220Val
CA354763065
NM_001363857.1:c.658C>G