ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580376108
Gene: ATP6V0A2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036595.2:p.Ile227Val
CA387152943
NM_012463.4:c.679A>G