ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826088929
Gene: GBA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
19368
ClinVar RCV:
RCV000004574
RCV000020155
ClinVar Variation:
4329
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165283.1:p.Arg121Leu
CA253112
NM_001171812.2:c.362G>T