ClinGen Allele Registry
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Canonical Allele Identifier:
PA658660355
Gene: FBN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
457162
ClinVar RCV Id:
RCV000547735
RCV000663458
RCV000763359
RCV001798874
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Cys488Arg
CA392343563
NM_000138.5:c.1462T>C