ClinGen Allele Registry
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Canonical Allele Identifier:
PA915964677
Gene: GAA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
445909
ClinVar RCV:
RCV000519755
RCV001834682
ClinVar Variation:
449460
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073272.1:p.Pro522Thr
CA401367208
NM_001079804.3:c.1564C>A