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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:
CA232849943
Gene: KLRK1-AS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1019805268
MyVariant Identifiers:
chr12:g.10521317_10521318insA (hg19)
chr12:g.10368718_10368719insA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.10368724dup , CM000674.2:g.10368724dup
GRCh38
NC_000012.11:g.10521323dup , CM000674.1:g.10521323dup
GRCh37
NC_000012.10:g.10412590dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_120430.1:n.265+4691dup
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