ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658799996
Gene: GBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
522661
ClinVar RCV Id:
RCV000625801
RCV001248920
RCV004025287
RCV002483756
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005741.1:p.Ser35Leu
CA1141859
NM_001005741.2:c.104C>T