ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658674426
Gene: GAA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000543300
RCV003144317
ClinVar Variation:
456396
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Ala749Ser
CA8815668
NM_000152.5:c.2245G>T