ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645399296
Gene: ATP6V1B2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001684.2:p.Glu374Gln
CA370473147
NM_001693.4:c.1120G>C