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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:
CA2100532403
Gene:
Linked Data
dbSNP Id:
rs1876840491
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.70675413_70675440dup , CM000675.2:g.70675413_70675440dup
GRCh38
NC_000013.10:g.71249545_71249572dup , CM000675.1:g.71249545_71249572dup
GRCh37
NC_000013.9:g.70147546_70147573dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'