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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:
CA819127444
Gene:
Linked Data
dbSNP Id:
rs1282042457
gnomAD v3:
6-132572526-TTCCC-T
gnomAD v4:
6-132572526-TTCCC-T
MyVariant Identifiers:
chr6:g.132893666_132893669del (hg19)
chr6:g.132572527_132572530del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.132572527_132572530del , CM000668.2:g.132572527_132572530del
GRCh38
NC_000006.11:g.132893666_132893669del , CM000668.1:g.132893666_132893669del
GRCh37
NC_000006.10:g.132935359_132935362del
NCBI36
NG_016544.1:g.7206_7209del
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