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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:
CA27681662
Gene:
Linked Data
dbSNP Id:
rs947491897
gnomAD v3:
1-100718410-AACCAGGTAGGG-A
gnomAD v4:
1-100718410-AACCAGGTAGGG-A
MyVariant Identifiers:
chr1:g.101183967_101183977del (hg19)
chr1:g.100718411_100718421del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.100718413_100718423del , CM000663.2:g.100718413_100718423del
GRCh38
NC_000001.10:g.101183969_101183979del , CM000663.1:g.101183969_101183979del
GRCh37
NC_000001.9:g.100956557_100956567del
NCBI36
NG_023034.2:g.3673_3683del
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