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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:
CA2582343011
Gene: FLG
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.152314010dup , CM000663.2:g.152314010dup
GRCh38
NC_000001.10:g.152286486dup , CM000663.1:g.152286486dup
GRCh37
NC_000001.9:g.150553110dup
NCBI36
NG_016190.1:g.16194dup , LRG_1028:g.16194dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000368799.2:c.876dup
MANE Select
ENSP00000357789.1:p.Arg293Ter
ENST00000368799.1:c.876dup
ENSP00000357789.1:p.Arg293Ter
NM_002016.1:c.876dup , LRG_1028t1:c.876dup
NP_002007.1:p.Arg293Ter
NR_103778.1:n.552dup
XM_011509329.1:c.876dup
XP_011507631.1:p.Arg293Ter
NM_002016.2:c.876dup
MANE Select
NP_002007.1:p.Arg293Ter
Search 100 bp 5'
Search 100 bp 3'