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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:
CA2571162528
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.57238083_57238084insAGATAATTTTGTC , CM000673.2:g.57238083_57238084insAGATAATTTTGTC
GRCh38
NC_000011.9:g.57005557_57005558insAGATAATTTTGTC , CM000673.1:g.57005557_57005558insAGATAATTTTGTC
GRCh37
NC_000011.8:g.56762133_56762134insAGATAATTTTGTC
NCBI36
Search 100 bp 5'
Search 100 bp 3'