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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:
CA765168152
Gene:
Linked Data
dbSNP Id:
rs5838863
gnomAD v3:
2-221207340-C-CAAAAAA
gnomAD v4:
2-221207340-C-CAAAAAA
MyVariant Identifiers:
chr2:g.222072060_222072061insAAAAAA (hg19)
chr2:g.221207340_221207341insAAAAAA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.221207357_221207362dup , CM000664.2:g.221207357_221207362dup
GRCh38
NC_000002.11:g.222072077_222072082dup , CM000664.1:g.222072077_222072082dup
GRCh37
NC_000002.10:g.221780321_221780326dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'