ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827791043
Gene: STAMBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50791
ClinVar RCV Id:
RCV000043572
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340897.1:p.Glu42Gly
CA263222
NM_001353968.2:c.125A>G