ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827790916
Gene: STAMBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50793
ClinVar RCV Id:
RCV000043574
RCV000426675
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340896.1:p.Arg38Cys
CA263227
NM_001353967.2:c.112C>T