ClinGen Allele Registry
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Canonical Allele Identifier:
PA658800720
Gene: FBN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000631947
ClinVar Variation:
527168
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Asn1504Tyr
CA392353614
NM_000138.5:c.4510A>T