ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826687680
Gene: GUSB
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000360113
ClinVar Variation:
360552
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001271219.1:p.Ala184Ser
CA4276429
NM_001284290.2:c.550G>T