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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:
CA2015608160
Gene: CLECL1P
HGNC
NCBI
Linked Data
dbSNP Id:
rs1866134244
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.9703343_9703350del , CM000674.2:g.9703343_9703350del
GRCh38
NC_000012.11:g.9855939_9855946del , CM000674.1:g.9855939_9855946del
GRCh37
NC_000012.10:g.9747206_9747213del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000702603.1:n.320-901_320-894del
Search 100 bp 5'
Search 100 bp 3'