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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:
CA892062411
Gene:
Linked Data
dbSNP Id:
rs1381412020
gnomAD v3:
1-182199615-TAA-T
gnomAD v4:
1-182199615-TAA-T
MyVariant Identifiers:
chr1:g.182168751_182168752del (hg19)
chr1:g.182199616_182199617del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.182199617_182199618del , CM000663.2:g.182199617_182199618del
GRCh38
NC_000001.10:g.182168752_182168753del , CM000663.1:g.182168752_182168753del
GRCh37
NC_000001.9:g.180435375_180435376del
NCBI36
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