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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:
CA1969144799
Gene: LRP4
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.46894689C= , CM000673.2:g.46894689C=
GRCh38
NC_000011.9:g.46916240C= , CM000673.1:g.46916240C=
GRCh37
NC_000011.8:g.46872816C=
NCBI36
NG_021394.1:g.28934G=
Transcript Alleles
HGVS
Amino-acid change
ENST00000378623.6:c.1440G=
MANE Select
ENSP00000367888.1:p.Glu480=
ENST00000378623.5:c.1440G=
ENSP00000367888.1:p.Glu480=
NM_002334.3:c.1440G=
NP_002325.2:p.Glu480=
XM_011520102.1:c.1653G=
XP_011518404.1:p.Glu551=
XM_011520103.1:c.636G=
XP_011518405.1:p.Glu212=
XM_011520103.2:c.636G=
XP_011518405.1:p.Glu212=
XM_017017734.1:c.1440G=
XP_016873223.1:p.Glu480=
NM_002334.4:c.1440G=
MANE Select
NP_002325.2:p.Glu480=
Search 100 bp 5'
Search 100 bp 3'