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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:
CA2687386845
Gene:
Linked Data
gnomAD v4:
8-60281530-TC-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.60281533del , CM000670.2:g.60281533del
GRCh38
NC_000008.10:g.61194092del , CM000670.1:g.61194092del
GRCh37
NC_000008.9:g.61356646del
NCBI36
NG_023193.1:g.4865del
NG_023193.2:g.4865del
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