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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:
CA1541192817
Gene:
Linked Data
dbSNP Id:
rs1743252648
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.40414747dup , CM000667.2:g.40414747dup
GRCh38
NC_000005.9:g.40414849dup , CM000667.1:g.40414849dup
GRCh37
NC_000005.8:g.40450606dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'