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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:
CA2788452070
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.70767583_70767585del , CM000672.2:g.70767583_70767585del
GRCh38
NC_000010.10:g.72527339_72527341del , CM000672.1:g.72527339_72527341del
GRCh37
NC_000010.9:g.72197345_72197347del
NCBI36
Search 100 bp 5'
Search 100 bp 3'