ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741885451
Gene: ATP6V1B1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001683.2:p.Glu330Lys
CA1701213
NM_001692.4:c.988G>A