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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:
CA630303887
Gene:
Linked Data
dbSNP Id:
rs1174108554
gnomAD v2:
18-57882693-CAAA-C
gnomAD v3:
18-60215460-CAAA-C
gnomAD v4:
18-60215460-CAAA-C
MyVariant Identifiers:
chr18:g.57882694_57882696del (hg19)
chr18:g.60215461_60215463del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.60215463_60215465del , CM000680.2:g.60215463_60215465del
GRCh38
NC_000018.9:g.57882696_57882698del , CM000680.1:g.57882696_57882698del
GRCh37
NC_000018.8:g.56033676_56033678del
NCBI36
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