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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:
CA2509465336
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.100613259_100613260insATCTTGATTTTGTCC , CM000667.2:g.100613259_100613260insATCTTGATTTTGTCC
GRCh38
NC_000005.9:g.99948963_99948964insATCTTGATTTTGTCC , CM000667.1:g.99948963_99948964insATCTTGATTTTGTCC
GRCh37
NC_000005.8:g.99976862_99976863insATCTTGATTTTGTCC
NCBI36
Search 100 bp 5'
Search 100 bp 3'