ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645403548
Gene: FBN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
264175
ClinVar RCV Id:
RCV001256945
RCV002311091
ClinVar Variation Id:
488792
ClinVar RCV Id:
RCV000579129
RCV000631972
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Met1Ile