ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139667990
Gene: GBE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
900179
ClinVar RCV Id:
RCV001145201
RCV001145202
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000149.4:p.Lys68Met
CA2500033
NM_000158.4:c.203A>T