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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
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Canonical Allele Identifier:
CA1282456417
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.118079600_118079603delinsTGGA , CM000664.2:g.118079600_118079603delinsTGGA
GRCh38
NC_000002.11:g.118837176_118837179delinsTGGA , CM000664.1:g.118837176_118837179delinsTGGA
GRCh37
NC_000002.10:g.118553646_118553649delinsTGGA
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XM_011512305.1:c.697-2071_697-2068delinsTCCA
XP_011510607.1:n.697-2071_697-2068delinsTCCA
XR_001739662.2:n.138+8648_138+8651delinsTCCA
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