ClinGen Allele Registry
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Canonical Allele Identifier:
PA175273
Gene: ATP6V1B1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000150169
RCV000263713
RCV000487883
RCV003935260
ClinVar Variation:
162762
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001683.2:p.Ala272Val
CA175272
NM_001692.4:c.815C>T