ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825461787
Gene: GAA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000004241
ClinVar Variation:
4026
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073271.1:p.Ser529Val
CA116604
NM_001079803.3:c.1585_1586delinsGT