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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:
CA2220563174
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.47835051_47835052delinsCA , CM000678.2:g.47835051_47835052delinsCA
GRCh38
NC_000016.9:g.47868962_47868963delinsCA , CM000678.1:g.47868962_47868963delinsCA
GRCh37
NC_000016.8:g.46426463_46426464delinsCA
NCBI36
Search 100 bp 5'
Search 100 bp 3'