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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:
CA352293294
Gene: KLHL40
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr3:g.42729665T>G (hg19)
chr3:g.42688173T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.42688173T>G , CM000665.2:g.42688173T>G
GRCh38
NC_000003.11:g.42729665T>G , CM000665.1:g.42729665T>G
GRCh37
NC_000003.10:g.42704669T>G
NCBI36
NG_033035.1:g.7655T>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000287777.5:c.1184T>G
MANE Select
ENSP00000287777.4:p.Met395Arg
ENST00000287777.4:c.1184T>G
ENSP00000287777.4:p.Met395Arg
NM_152393.3:c.1184T>G
NP_689606.2:p.Met395Arg
XM_005264866.2:c.1184T>G
XP_005264923.1:p.Met395Arg
NM_152393.4:c.1184T>G
MANE Select
NP_689606.2:p.Met395Arg
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