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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:
CA2807162646
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.56960566dup , CM000678.2:g.56960566dup
GRCh38
NC_000016.9:g.56994478dup , CM000678.1:g.56994478dup
GRCh37
NC_000016.8:g.55551979dup
NCBI36
NG_008952.1:g.3644dup
Search 100 bp 5'
Search 100 bp 3'