ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645417318
Gene: GUSB
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000293404
ClinVar Variation:
360557
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000172.2:p.Ser5Pro
CA4276760
NM_000181.4:c.13T>C