ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658826208
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
550397
ClinVar RCV Id:
RCV000665131
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Leu141Met
CA401361229
NM_000152.5:c.421C>A