ClinGen Allele Registry
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Canonical Allele Identifier:
PA916031232
Gene: FANCA
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000466659
RCV000503748
RCV001118714
RCV001172102
ClinVar Variation:
408185
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338759.1:p.Thr126Arg
CA8253047
NM_001351830.2:c.377C>G