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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
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Canonical Allele Identifier:
CA2474580023
Gene: CMPK1
HGNC
NCBI
LINC01389
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.47388870_47388872delinsCAG , CM000663.2:g.47388870_47388872delinsCAG
GRCh38
NC_000001.10:g.47854542_47854544delinsCAG , CM000663.1:g.47854542_47854544delinsCAG
GRCh37
NC_000001.9:g.47627129_47627131delinsCAG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000699074.1:c.550-5411_550-5409delinsCAG
(CMPK1)
ENSP00000514113.1:n.550-5411_550-5409deli...
NR_126355.1:n.405-2516_405-2514delinsCTG
(LINC01389)
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