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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:
CA630310796
Gene:
Linked Data
dbSNP Id:
rs1421452004
gnomAD v2:
18-58040284-ATATCAAAACAAGCTATC-A
gnomAD v3:
18-60373051-ATATCAAAACAAGCTATC-A
gnomAD v4:
18-60373051-ATATCAAAACAAGCTATC-A
MyVariant Identifiers:
chr18:g.58040285_58040301del (hg19)
chr18:g.60373052_60373068del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.60373053_60373069del , CM000680.2:g.60373053_60373069del
GRCh38
NC_000018.9:g.58040286_58040302del , CM000680.1:g.58040286_58040302del
GRCh37
NC_000018.8:g.56191266_56191282del
NCBI36
NG_016441.1:g.4701_4717del
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