ClinGen Allele Registry
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Canonical Allele Identifier:
PA304104
Gene: FBN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
197734
ClinVar RCV:
RCV000181484
RCV000690524
RCV000781357
RCV001179626
RCV002277441
RCV002500529
RCV003996682
ClinVar Variation:
200016
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.His1130Arg
CA014034
NM_000138.5:c.3389A>G