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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:
CA522560017
Gene:
Linked Data
dbSNP Id:
rs1252136363
gnomAD v2:
1-45794632-G-GC
gnomAD v3:
1-45328960-G-GC
gnomAD v4:
1-45328960-G-GC
MyVariant Identifiers:
chr1:g.45794632_45794633insC (hg19)
chr1:g.45328960_45328961insC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.45328963dup , CM000663.2:g.45328963dup
GRCh38
NC_000001.10:g.45794635dup , CM000663.1:g.45794635dup
GRCh37
NC_000001.9:g.45567222dup
NCBI36
NG_008189.1:g.16510dup , LRG_220:g.16510dup
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