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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:
CA2761725102
Gene: KDR
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.55112709del , CM000666.2:g.55112709del
GRCh38
NC_000004.11:g.55978876del , CM000666.1:g.55978876del
GRCh37
NC_000004.10:g.55673633del
NCBI36
NG_012004.1:g.17891del
Transcript Alleles
HGVS
Amino-acid change
ENST00000263923.5:c.976+599del
MANE Select
ENSP00000263923.4:n.976+599del
ENST00000647068.1:n.989+599del
ENST00000263923.4:c.976+599del
ENSP00000263923.4:n.976+599del
ENST00000512566.1:n.976+599del
NM_002253.2:c.976+599del
NP_002244.1:n.976+599del
NM_002253.3:c.976+599del
NP_002244.1:n.976+599del
NM_002253.4:c.976+599del
MANE Select
NP_002244.1:n.976+599del
Search 100 bp 5'
Search 100 bp 3'