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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:
CA2754034636
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.207629362del , CM000664.2:g.207629362del
GRCh38
NC_000002.11:g.208494086del , CM000664.1:g.208494086del
GRCh37
NC_000002.10:g.208202331del
NCBI36
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Search 100 bp 3'