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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:
CA2673828300
Gene:
Linked Data
gnomAD v4:
5-53560503-TTAAAC-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.53560507_53560511del , CM000667.2:g.53560507_53560511del
GRCh38
NC_000005.9:g.52856337_52856341del , CM000667.1:g.52856337_52856341del
GRCh37
NC_000005.8:g.52892094_52892098del
NCBI36
NG_008200.1:g.4873_4877del
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