ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891850735
Gene: ATP6V1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000708561
ClinVar Variation:
584428
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001681.2:p.Pro375Thr
CA354018558
NM_001690.4:c.1123C>A