Canonical Allele Identifier: CA2819165867
Gene: FBLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45566036T>A , CM000684.2:g.45566036T>A GRCh38
NC_000022.10:g.45961916T>A , CM000684.1:g.45961916T>A GRCh37
NC_000022.9:g.44340580T>A NCBI36
NG_023308.2:g.68198T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000327858.11:c.1698-8475T>A MANE Select ENSP00000331544.6:n.1698-8475T>A
ENST00000327858.10:c.1698-8475T>A ENSP00000331544.6:n.1698-8475T>A
NM_006486.2:c.1698-8475T>A NP_006477.2:n.1698-8475T>A
NM_006486.3:c.1698-8475T>A MANE Select NP_006477.3:n.1698-8475T>A
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