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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:
CA2481649179
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.203187881_203187900delinsGCTCTCTCCCTCTTCTCTCC , CM000663.2:g.203187881_203187900delinsGCTCTCTCCCTCTTCTCTCC
GRCh38
NC_000001.10:g.203157009_203157028delinsGCTCTCTCCCTCTTCTCTCC , CM000663.1:g.203157009_203157028delinsGCTCTCTCCCTCTTCTCTCC
GRCh37
NC_000001.9:g.201423632_201423651delinsGCTCTCTCCCTCTTCTCTCC
NCBI36
NG_013056.1:g.3895_3914delinsGGAGAGAAGAGGGAGAGAGC
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