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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:
CA844313467
Gene:
Linked Data
dbSNP Id:
rs1375979626
gnomAD v3:
7-97388615-CTG-C
gnomAD v4:
7-97388615-CTG-C
MyVariant Identifiers:
chr7:g.97017928_97017929del (hg19)
chr7:g.97388616_97388617del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.97388616_97388617del , CM000669.2:g.97388616_97388617del
GRCh38
NC_000007.13:g.97017928_97017929del , CM000669.1:g.97017928_97017929del
GRCh37
NC_000007.12:g.96855864_96855865del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001745293.1:n.127-59970_127-59969del
Search 100 bp 5'
Search 100 bp 3'