ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828784313
Gene: ATP6V0A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365480.1:p.Ala546Pro
CA399594217
NM_001378551.1:c.1636G>C