ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827791165
Gene: STAMBP
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001808859
RCV002074227
ClinVar Variation:
1333643
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340898.1:p.Arg38Gly
CA347303522
NM_001353969.2:c.112C>G