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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:
CA603246773
Gene: CLECL1P
HGNC
NCBI
Linked Data
dbSNP Id:
rs1425352053
gnomAD v2:
12-9855863-ATGT-A
gnomAD v3:
12-9703267-ATGT-A
gnomAD v4:
12-9703267-ATGT-A
MyVariant Identifiers:
chr12:g.9855864_9855866del (hg19)
chr12:g.9703268_9703270del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.9703272_9703274del , CM000674.2:g.9703272_9703274del
GRCh38
NC_000012.11:g.9855868_9855870del , CM000674.1:g.9855868_9855870del
GRCh37
NC_000012.10:g.9747135_9747137del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000702603.1:n.320-830_320-828del
Search 100 bp 5'
Search 100 bp 3'