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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:
CA2572375159
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.104685241dup , CM000663.2:g.104685241dup
GRCh38
NC_000001.10:g.105227863dup , CM000663.1:g.105227863dup
GRCh37
NC_000001.9:g.105029386dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'