ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828784036
Gene: ATP6V0A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365473.1:p.Ala505Pro
CA399594217
NM_001378544.1:c.1513G>C