ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645404963
Gene: FBN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
263789
ClinVar RCV Id:
RCV000632016
RCV001186050
RCV003105842
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Met1230Thr
CA051349
NM_000138.5:c.3689T>C