ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828784400
Gene: ATP6V0A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365483.1:p.Pro585Ser
CA8576452
NM_001378554.1:c.1753C>T