ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915970190
Gene: ATP6AP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001174.2:p.Arg180His
CA10562630
NM_001183.6:c.539G>A