Canonical Allele Identifier: CA2408314434
Gene: FBLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45565936C= , CM000684.2:g.45565936C= GRCh38
NC_000022.10:g.45961816C= , CM000684.1:g.45961816C= GRCh37
NC_000022.9:g.44340480C= NCBI36
NG_023308.2:g.68098C=

Transcript Alleles

HGVS Amino-acid change
ENST00000327858.11:c.1698-8575C= MANE Select ENSP00000331544.6:n.1698-8575C=
ENST00000327858.10:c.1698-8575C= ENSP00000331544.6:n.1698-8575C=
NM_006486.2:c.1698-8575C= NP_006477.2:n.1698-8575C=
NM_006486.3:c.1698-8575C= MANE Select NP_006477.3:n.1698-8575C=
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