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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:
CA2610262399
Gene:
Linked Data
gnomAD v4:
10-94762567-TTCAG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.94762568_94762571del , CM000672.2:g.94762568_94762571del
GRCh38
NC_000010.10:g.96522325_96522328del , CM000672.1:g.96522325_96522328del
GRCh37
NC_000010.9:g.96512315_96512318del
NCBI36
NG_008384.2:g.4863_4866del
NG_008384.3:g.4888_4891del
Transcript Alleles
HGVS
Amino-acid change
ENST00000464755.1:c.932-12490_932-12487del
ENSP00000483243.1:n.932-12490_932-12487de...
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