ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827791173
Gene: STAMBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1493517
ClinVar RCV Id:
RCV001984435
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340898.1:p.Tyr66Phe
CA1717454
NM_001353969.2:c.197A>T