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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:
CA2567713456
Gene: CLECL1P
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.9703293_9703294insTTTAGTAGCAA , CM000674.2:g.9703293_9703294insTTTAGTAGCAA
GRCh38
NC_000012.11:g.9855889_9855890insTTTAGTAGCAA , CM000674.1:g.9855889_9855890insTTTAGTAGCAA
GRCh37
NC_000012.10:g.9747156_9747157insTTTAGTAGCAA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000702603.1:n.320-851_320-850insCTACTAAATTG
Search 100 bp 5'
Search 100 bp 3'