ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580107469
Gene: GUSB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2432339
ClinVar RCV Id:
RCV003135499
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000172.2:p.Lys628Thr
CA367637231
NM_000181.4:c.1883A>C