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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.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2804070186
Gene: FBN1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.48409107C>T , CM000677.2:g.48409107C>T
GRCh38
NC_000015.9:g.48701304C>T , CM000677.1:g.48701304C>T
GRCh37
NC_000015.8:g.46488596C>T
NCBI36
NG_008805.2:g.241682G>A , LRG_778:g.241682G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000682170.1:n.4680G>A
ENST00000682767.1:n.3796G>A
ENST00000316623.10:c.*1883G>A
MANE Select
ENSP00000325527.5:n.*1883G>A
ENST00000316623.9:c.*1883G>A
ENSP00000325527.5:n.*1883G>A
NM_000138.4:c.*1883G>A , LRG_778t1:c.*1883G>A
NP_000129.3:n.*1883G>A
NM_000138.5:c.*1883G>A
MANE Select
NP_000129.3:n.*1883G>A
Search 100 bp 5'
Search 100 bp 3'