ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825329241
Gene: FANCA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
321366
ClinVar RCV Id:
RCV000274943
RCV001094307
RCV001820959
RCV003922359
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001018122.1:p.Val230Ile
CA8252857
NM_001018112.2:c.688G>A