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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:
CA1873786754
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.114321450_114321454delinsTTTTG , CM000671.2:g.114321450_114321454delinsTTTTG
GRCh38
NC_000009.11:g.117083730_117083734delinsTTTTG , CM000671.1:g.117083730_117083734delinsTTTTG
GRCh37
NC_000009.10:g.116123551_116123555delinsTTTTG
NCBI36
NG_012108.1:g.3428_3432delinsTTTTG
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