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: PA101669

Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 526

ClinVar RCV Id: RCV000000555

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Cys1142Phe	CA281517 NM_001999.4:c.3425G>T