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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:
CA635751526
Gene:
Linked Data
dbSNP Id:
rs1156515937
gnomAD v2:
20-48575235-TC-T
gnomAD v3:
20-49958698-TC-T
gnomAD v4:
20-49958698-TC-T
MyVariant Identifiers:
chr20:g.48575236del (hg19)
chr20:g.49958699del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.49958699del , CM000682.2:g.49958699del
GRCh38
NC_000020.10:g.48575236del , CM000682.1:g.48575236del
GRCh37
NC_000020.9:g.48008643del
NCBI36
Search 100 bp 5'
Search 100 bp 3'