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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:
CA777714579
Gene:
Linked Data
dbSNP Id:
rs1171456779
gnomAD v3:
18-23663947-CA-C
gnomAD v4:
18-23663947-CA-C
MyVariant Identifiers:
chr18:g.21243912del (hg19)
chr18:g.23663948del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.23663951del , CM000680.2:g.23663951del
GRCh38
NC_000018.9:g.21243915del , CM000680.1:g.21243915del
GRCh37
NC_000018.8:g.19497913del
NCBI36
Search 100 bp 5'
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