ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658659637
Gene: GUSB
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000550006
RCV001252504
RCV001726216
ClinVar Variation:
458510
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000172.2:p.Asp152Asn
CA4276629
NM_000181.4:c.454G>A