ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916018628
Gene: GUSB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280034.1:p.Ala79Val
CA367645796
NM_001293105.2:c.236C>T