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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:
CA2518265661
Gene: CLECL1P
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.9703297_9703298insTCCAGAATGGATTGC , CM000674.2:g.9703297_9703298insTCCAGAATGGATTGC
GRCh38
NC_000012.11:g.9855893_9855894insTCCAGAATGGATTGC , CM000674.1:g.9855893_9855894insTCCAGAATGGATTGC
GRCh37
NC_000012.10:g.9747160_9747161insTCCAGAATGGATTGC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000702603.1:n.320-857_320-856insCAATCCATTCTGGAG
Search 100 bp 5'
Search 100 bp 3'