ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825068712
Gene: GBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2205183
ClinVar RCV Id:
RCV004073721
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000148.2:p.Ile158Met
CA342724779
NM_000157.4:c.474C>G