ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573063933
Gene: GBA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005742.1:p.Asp438His
CA342713226
NM_001005742.2:c.1312G>C