ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645424050
Gene: ATP6V0A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
423619
ClinVar RCV Id:
RCV000483300
RCV002526950
RCV003915336
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036595.2:p.His130Tyr
CA6861590
NM_012463.4:c.388C>T