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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:
CA2240010137
Gene:
Linked Data
dbSNP Id:
rs1170418833
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.86677138_86677142dup , CM000678.2:g.86677138_86677142dup
GRCh38
NC_000016.9:g.86710744_86710748dup , CM000678.1:g.86710744_86710748dup
GRCh37
NC_000016.8:g.85268245_85268249dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'