ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825068721
Gene: GBA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000179352
RCV003323429
ClinVar Variation:
198110
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000148.2:p.Met162Thr
CA246603
NM_000157.4:c.485T>C