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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:
CA2662973337
Gene:
Linked Data
gnomAD v4:
2-214810163-GGGGCGGGGCCTGAAGGCTGAGCGCAGTCGCGAGGCTGTAGTTGGCAGGAGAGC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.214810179_214810231del , CM000664.2:g.214810179_214810231del
GRCh38
NC_000002.11:g.215674903_215674955del , CM000664.1:g.215674903_215674955del
GRCh37
NC_000002.10:g.215383148_215383200del
NCBI36
NG_012047.2:g.4489_4541del
NG_012047.3:g.4496_4548del
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