Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA1139673487

Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 852682

ClinVar RCV Id: RCV001057340 RCV001187882 RCV001194181 RCV003393822 RCV004000088

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Lys904Arg	CA048517 NM_000138.5:c.2711A>G