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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:
CA2002992414
Gene: CEP164
HGNC
NCBI
Linked Data
dbSNP Id:
rs2035155592
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.117317477del , CM000673.2:g.117317477del
GRCh38
NC_000011.9:g.117188193del , CM000673.1:g.117188193del
GRCh37
NC_000011.8:g.116693403del
NCBI36
NG_029372.1:g.3780del
NG_033032.1:g.700del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000525734.5:c.-98+2749del
ENSP00000436609.1:n.-98+2749del
XM_017017364.1:c.-98+944del
XP_016872853.1:n.-98+944del
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