Canonical Allele Identifier: PA101640
Gene: FBN2 HGNC NCBI
ClinVar RCV:
RCV000000554
ClinVar Variation:
525
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Asp1115His
CA281516
NM_001999.4:c.3343G>C