ClinGen Allele Registry
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Canonical Allele Identifier:
PA915964565
Gene: GAA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
177294
ClinVar RCV:
RCV000153288
RCV001326695
ClinVar Variation:
167112
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073272.1:p.Tyr407His
CA234047
NM_001079804.3:c.1219T>C