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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:
CA1042645731
Gene:
Linked Data
dbSNP Id:
rs5838863
gnomAD v3:
2-221207340-C-CAAAAAAA
gnomAD v4:
2-221207340-C-CAAAAAAA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.221207356_221207362dup , CM000664.2:g.221207356_221207362dup
GRCh38
NC_000002.11:g.222072076_222072082dup , CM000664.1:g.222072076_222072082dup
GRCh37
NC_000002.10:g.221780320_221780326dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'