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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:
CA1528177784
Gene:
Linked Data
dbSNP Id:
rs1738210843
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.13242856_13242857del , CM000667.2:g.13242856_13242857del
GRCh38
NC_000005.9:g.13242968_13242969del , CM000667.1:g.13242968_13242969del
GRCh37
NC_000005.8:g.13295968_13295969del
NCBI36
Search 100 bp 5'
Search 100 bp 3'