ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA304102
Gene: FBN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
200015
ClinVar RCV Id:
RCV000254660
RCV001048335
RCV002310747
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Asp1115Gly
CA013984
NM_000138.5:c.3344A>G