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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:
CA753061755
Gene: CBX7
HGNC
NCBI
Linked Data
dbSNP Id:
rs1167586203
MyVariant Identifiers:
chr22:g.39519134_39519135del (hg19)
chr22:g.39123129_39123130del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.39123129_39123130del , CM000684.2:g.39123129_39123130del
GRCh38
NC_000022.10:g.39519134_39519135del , CM000684.1:g.39519134_39519135del
GRCh37
NC_000022.9:g.37849080_37849081del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000475962.5:n.45-2557_45-2556del
Search 100 bp 5'
Search 100 bp 3'