ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658674490
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
456414
ClinVar RCV Id:
RCV000545976
RCV000731605
RCV003155227
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Val909Met
CA8815839
NM_000152.5:c.2725G>A