ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499271932
Gene: ATP6AP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001464818
ClinVar Variation:
1131079
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005756.2:p.Arg133Lys
CA10387210
NM_005765.2:c.398G>A