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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:
CA781042331
Gene:
Linked Data
dbSNP Id:
rs1456288119
gnomAD v3:
18-60215471-CA-C
gnomAD v4:
18-60215471-CA-C
MyVariant Identifiers:
chr18:g.57882705del (hg19)
chr18:g.60215472del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.60215473del , CM000680.2:g.60215473del
GRCh38
NC_000018.9:g.57882706del , CM000680.1:g.57882706del
GRCh37
NC_000018.8:g.56033686del
NCBI36
Search 100 bp 5'
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