ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099199
Gene: MBTPS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056968.1:p.Arg429His
CA121441
NM_015884.4:c.1286G>A