ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658826228
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000671932
RCV001576168
RCV002307586
ClinVar Variation:
555998
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Val350Met
CA8815133
NM_000152.5:c.1048G>A