ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139674882
Gene: FBN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
912826
ClinVar RCV:
RCV001176415
ClinVar Variation:
918685
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Arg1530Ser
CA392353179
NM_000138.5:c.4588C>A