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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:
CA1330040973
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.221207357_221207363delinsAAAAAAG , CM000664.2:g.221207357_221207363delinsAAAAAAG
GRCh38
NC_000002.11:g.222072077_222072083delinsAAAAAAG , CM000664.1:g.222072077_222072083delinsAAAAAAG
GRCh37
NC_000002.10:g.221780321_221780327delinsAAAAAAG
NCBI36
Search 100 bp 5'
Search 100 bp 3'