ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825240072
Gene: ATP5F1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
432972
ClinVar RCV Id:
RCV000497633
RCV001293385
RCV003226313
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001001935.1:p.Arg157His
CA402357044
NM_001001935.3:c.470G>A