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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:
CA2554637132
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.186093982_186093983del , CM000666.2:g.186093982_186093983del
GRCh38
NC_000004.11:g.187015136_187015137del , CM000666.1:g.187015136_187015137del
GRCh37
NC_000004.10:g.187252130_187252131del
NCBI36
Search 100 bp 5'
Search 100 bp 3'