ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826439730
Gene: ATP5F1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1722873
ClinVar RCV Id:
RCV002305980
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244263.1:p.Ile482Met
CA8950541
NM_001257334.2:c.1446T>G