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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:
CA1087631512
Gene:
Linked Data
gnomAD v3:
6-32696507-C-CTCATCCCCTGGCAACACTTTACTGGTGTCCAGTCAGTTGCTTACTGTACACCAG
gnomAD v4:
6-32696507-C-CTCATCCCCTGGCAACACTTTACTGGTGTCCAGTCAGTTGCTTACTGTACACCAG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.32696508_32696509insCATCCCCTGGCAACACTTTACTGGTGTCCAGTCAGTTGCTTACTGTACACCAGT , CM000668.2:g.32696508_32696509insCATCCCCTGGCAACACTTTACTGGTGTCCAGTCAGTTGCTTACTGTACACCAGT
GRCh38
NC_000006.11:g.32664285_32664286insCATCCCCTGGCAACACTTTACTGGTGTCCAGTCAGTTGCTTACTGTACACCAGT , CM000668.1:g.32664285_32664286insCATCCCCTGGCAACACTTTACTGGTGTCCAGTCAGTTGCTTACTGTACACCAGT
GRCh37
NC_000006.10:g.32772263_32772264insCATCCCCTGGCAACACTTTACTGGTGTCCAGTCAGTTGCTTACTGTACACCAGT
NCBI36
Search 100 bp 5'
Search 100 bp 3'