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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:
CA1294976275
Gene:
Linked Data
dbSNP Id:
rs1706167220
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.144602377_144602380del , CM000664.2:g.144602377_144602380del
GRCh38
NC_000002.11:g.145359944_145359947del , CM000664.1:g.145359944_145359947del
GRCh37
NC_000002.10:g.145076414_145076417del
NCBI36
Search 100 bp 5'
Search 100 bp 3'