ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA199722
Gene: GUSB
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
188278
ClinVar RCV:
RCV000170584
RCV001283824
ClinVar Variation:
190463
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000172.2:p.Arg103Trp
CA199721
NM_000181.4:c.307C>T