ClinGen Allele Registry
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Canonical Allele Identifier:
PA645404351
Gene: FBN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
409285
ClinVar RCV:
RCV000485515
RCV001317673
RCV003485587
ClinVar Variation:
418193
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Tyr798Cys
CA16619966
NM_000138.5:c.2393A>G