ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645506661
Gene: ATP6V1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000477689
ClinVar Variation:
417773
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001681.2:p.Gly72Asp
CA16616874
NM_001690.4:c.215G>A