Canonical Allele Identifier: PA2573162237
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2418Ser
CA392328750
NM_000138.5:c.7253G>C
CA392328753
NM_000138.5:c.7252T>A