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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:
CA693835620
Gene: CLECL1P
HGNC
NCBI
Linked Data
dbSNP Id:
rs1262758685
MyVariant Identifiers:
chr12:g.9855915del (hg19)
chr12:g.9703319del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.9703324del , CM000674.2:g.9703324del
GRCh38
NC_000012.11:g.9855920del , CM000674.1:g.9855920del
GRCh37
NC_000012.10:g.9747187del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000702603.1:n.320-879del
Search 100 bp 5'
Search 100 bp 3'