ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658660785
Gene: FBN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
457198
ClinVar RCV Id:
RCV000528688
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Gly1206Arg
CA392324626
NM_000138.5:c.3616G>C