ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA239456
Gene: GAA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
190959
ClinVar RCV:
RCV000173980
RCV002516609
ClinVar Variation:
193796
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Gly528Ala
CA239454
NM_000152.5:c.1583G>C