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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:
CA174716714
Gene:
Linked Data
dbSNP Id:
rs1022074967
gnomAD v2:
8-29360139-GTCTTTGTATCTTTCATTT-G
gnomAD v3:
8-29502622-GTCTTTGTATCTTTCATTT-G
gnomAD v4:
8-29502622-GTCTTTGTATCTTTCATTT-G
MyVariant Identifiers:
chr8:g.29360140_29360157del (hg19)
chr8:g.29502623_29502640del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.29502641_29502658del , CM000670.2:g.29502641_29502658del
GRCh38
NC_000008.10:g.29360158_29360175del , CM000670.1:g.29360158_29360175del
GRCh37
NC_000008.9:g.29416077_29416094del
NCBI36
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