ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827628404
Gene: FANCA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
498553
ClinVar RCV Id:
RCV000593561
RCV001243169
RCV002483594
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338759.1:p.Glu228Lys
CA8252812
NM_001351830.2:c.682G>A