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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:
CA34242006
Gene:
Linked Data
dbSNP Id:
rs377015529
gnomAD v3:
1-182199850-TGA-T
gnomAD v4:
1-182199850-TGA-T
MyVariant Identifiers:
chr1:g.182168986_182168987del (hg19)
chr1:g.182199851_182199852del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.182199854_182199855del , CM000663.2:g.182199854_182199855del
GRCh38
NC_000001.10:g.182168989_182168990del , CM000663.1:g.182168989_182168990del
GRCh37
NC_000001.9:g.180435612_180435613del
NCBI36
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