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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:
CA763926405
Gene:
Linked Data
dbSNP Id:
rs1333233078
gnomAD v3:
2-207629467-TC-T
gnomAD v4:
2-207629467-TC-T
MyVariant Identifiers:
chr2:g.208494192del (hg19)
chr2:g.207629468del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.207629468del , CM000664.2:g.207629468del
GRCh38
NC_000002.11:g.208494192del , CM000664.1:g.208494192del
GRCh37
NC_000002.10:g.208202437del
NCBI36
Search 100 bp 5'
Search 100 bp 3'