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: PA645404543

Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406271

ClinVar RCV Id: RCV000460579 RCV000791419 RCV002526401 RCV002429487

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys908Arg	CA16614815 NM_000138.5:c.2722T>C