ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645481765
Gene: GAA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000410956
RCV000612594
RCV001782875
ClinVar Variation:
371305
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Met439Lys
CA8815258
NM_000152.5:c.1316T>A