ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828783598
Gene: ATP6V0A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365462.1:p.Pro696Ser
CA8576452
NM_001378533.1:c.2086C>T