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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:
CA2701092220
Gene:
Linked Data
dbSNP Id:
rs2105465976
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.175852938_175852941del , CM000664.2:g.175852938_175852941del
GRCh38
NC_000002.11:g.176717666_176717669del , CM000664.1:g.176717666_176717669del
GRCh37
NC_000002.10:g.176425912_176425915del
NCBI36
Search 100 bp 5'
Search 100 bp 3'