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: PA101794

Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 945271

ClinVar RCV Id: RCV001215872

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Cys1434Ser	CA360753978 NM_001999.4:c.4301G>C CA360753985 NM_001999.4:c.4300T>A