ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA116609
Gene: GAA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000004243
RCV001376754
ClinVar Variation:
4028
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Lys903del
CA116607
NM_000152.5:c.2707_2709del