ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658678676
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
456434
ClinVar RCV Id:
RCV000555802
RCV000732877
RCV000770759
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Ala242Val
CA8815002
NM_000152.5:c.725C>T