ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658678715
Gene: GAA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000560890
RCV001584243
RCV002252158
RCV002377004
ClinVar Variation:
456444
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.His308Tyr
CA8815089
NM_000152.5:c.922C>T