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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:
CA2730865590
Gene: FBN1
HGNC
NCBI
Linked Data
dbSNP Id:
rs2141207907
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.48409552del , CM000677.2:g.48409552del
GRCh38
NC_000015.9:g.48701749del , CM000677.1:g.48701749del
GRCh37
NC_000015.8:g.46489041del
NCBI36
NG_008805.2:g.241240del , LRG_778:g.241240del
Transcript Alleles
HGVS
Amino-acid change
ENST00000682170.1:n.4238del
ENST00000682767.1:n.3354del
ENST00000316623.10:c.*1441del
MANE Select
ENSP00000325527.5:n.*1441del
ENST00000316623.9:c.*1441del
ENSP00000325527.5:n.*1441del
NM_000138.4:c.*1441del , LRG_778t1:c.*1441del
NP_000129.3:n.*1441del
NM_000138.5:c.*1441del
MANE Select
NP_000129.3:n.*1441del
Search 100 bp 5'
Search 100 bp 3'