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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:
CA1458933600
Gene: KDR
HGNC
NCBI
Linked Data
dbSNP Id:
rs1720629180
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.55112838dup , CM000666.2:g.55112838dup
GRCh38
NC_000004.11:g.55979005dup , CM000666.1:g.55979005dup
GRCh37
NC_000004.10:g.55673762dup
NCBI36
NG_012004.1:g.17759dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000263923.5:c.976+467dup
MANE Select
ENSP00000263923.4:n.976+467dup
ENST00000647068.1:n.989+467dup
ENST00000263923.4:c.976+467dup
ENSP00000263923.4:n.976+467dup
ENST00000512566.1:n.976+467dup
NM_002253.2:c.976+467dup
NP_002244.1:n.976+467dup
NM_002253.3:c.976+467dup
NP_002244.1:n.976+467dup
NM_002253.4:c.976+467dup
MANE Select
NP_002244.1:n.976+467dup
Search 100 bp 5'
Search 100 bp 3'