ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741887268
Gene: ATP6V1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001681.2:p.Asp100Val
CA354007665
NM_001690.4:c.299A>T