ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658813884
Gene: MBTPS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
521430
ClinVar RCV Id:
RCV000624223
RCV002060690
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056968.1:p.Thr97Met
CA10367325
NM_015884.4:c.290C>T