ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645405015
Gene: FBN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000413109
ClinVar Variation:
373490
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Cys1263Trp
CA16042964
NM_000138.5:c.3789C>G