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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:
CA2377870419
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.14472493_14472506delinsGTCCCTTGTGTGAA , CM000683.2:g.14472493_14472506delinsGTCCCTTGTGTGAA
GRCh38
NC_000021.8:g.15844814_15844827delinsGTCCCTTGTGTGAA , CM000683.1:g.15844814_15844827delinsGTCCCTTGTGTGAA
GRCh37
NC_000021.7:g.14766685_14766698delinsGTCCCTTGTGTGAA
NCBI36
Search 100 bp 5'
Search 100 bp 3'