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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:
CA2224388448
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.56954131_56954132delinsCC , CM000678.2:g.56954131_56954132delinsCC
GRCh38
NC_000016.9:g.56988043_56988044delinsCC , CM000678.1:g.56988043_56988044delinsCC
GRCh37
NC_000016.8:g.55545544_55545545delinsCC
NCBI36
Search 100 bp 5'
Search 100 bp 3'