ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA273688
Gene: GAA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000156941
RCV001310382
ClinVar Variation:
180144
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Leu299Pro
CA273686
NM_000152.5:c.896T>C