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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:
CA731643521
Gene:
Linked Data
dbSNP Id:
rs1473834344
gnomAD v3:
1-218671473-T-TA
gnomAD v4:
1-218671473-T-TA
MyVariant Identifiers:
chr1:g.218844815_218844816insA (hg19)
chr1:g.218671473_218671474insA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.218671474dup , CM000663.2:g.218671474dup
GRCh38
NC_000001.10:g.218844816dup , CM000663.1:g.218844816dup
GRCh37
NC_000001.9:g.216911439dup
NCBI36
Search 100 bp 5'
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