ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA304132
Gene: FBN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
200035
ClinVar RCV Id:
RCV000181507
RCV001852279
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Asp1365Gly
CA014752
NM_000138.5:c.4094A>G