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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:
CA603277252
Gene: KLRK1-AS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1465021418
gnomAD v2:
12-10521408-CCAGCAGGGCTCG-C
gnomAD v3:
12-10368809-CCAGCAGGGCTCG-C
gnomAD v4:
12-10368809-CCAGCAGGGCTCG-C
MyVariant Identifiers:
chr12:g.10521409_10521420del (hg19)
chr12:g.10368810_10368821del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.10368817_10368828del , CM000674.2:g.10368817_10368828del
GRCh38
NC_000012.11:g.10521416_10521427del , CM000674.1:g.10521416_10521427del
GRCh37
NC_000012.10:g.10412683_10412694del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_120430.1:n.265+4784_265+4795del
Search 100 bp 5'
Search 100 bp 3'