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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:
CA691346399
Gene:
Linked Data
dbSNP Id:
rs1270260781
MyVariant Identifiers:
chr12:g.68956191_68956193del (hg19)
chr12:g.68562411_68562413del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.68562413_68562415del , CM000674.2:g.68562413_68562415del
GRCh38
NC_000012.11:g.68956193_68956195del , CM000674.1:g.68956193_68956195del
GRCh37
NC_000012.10:g.67242460_67242462del
NCBI36
Search 100 bp 5'
Search 100 bp 3'