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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:
CA854164116
Gene:
Linked Data
dbSNP Id:
rs1269594190
gnomAD v3:
8-63477225-CCTT-C
gnomAD v4:
8-63477225-CCTT-C
MyVariant Identifiers:
chr8:g.64389784_64389786del (hg19)
chr8:g.63477226_63477228del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.63477228_63477230del , CM000670.2:g.63477228_63477230del
GRCh38
NC_000008.10:g.64389786_64389788del , CM000670.1:g.64389786_64389788del
GRCh37
NC_000008.9:g.64552340_64552342del
NCBI36
Search 100 bp 5'
Search 100 bp 3'