ClinGen Allele Registry
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Canonical Allele Identifier:
PA658693708
Gene: FBN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
487629
ClinVar RCV:
RCV001185315
RCV001215047
RCV003488708
RCV004002413
ClinVar Variation:
495659
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Ala2714Val
CA059664
NM_000138.5:c.8141C>T