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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:
CA1497055467
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.136605510_136605514delinsATTTG , CM000666.2:g.136605510_136605514delinsATTTG
GRCh38
NC_000004.11:g.137526665_137526669delinsATTTG , CM000666.1:g.137526665_137526669delinsATTTG
GRCh37
NC_000004.10:g.137746115_137746119delinsATTTG
NCBI36
Search 100 bp 5'
Search 100 bp 3'