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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:
CA132267973
Gene:
Linked Data
dbSNP Id:
rs769266080
gnomAD v2:
5-175018035-AG-A
gnomAD v3:
5-175591032-AG-A
gnomAD v4:
5-175591032-AG-A
MyVariant Identifiers:
chr5:g.175018036del (hg19)
chr5:g.175591033del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.175591033del , CM000667.2:g.175591033del
GRCh38
NC_000005.9:g.175018036del , CM000667.1:g.175018036del
GRCh37
NC_000005.8:g.174950642del
NCBI36
Search 100 bp 5'
Search 100 bp 3'