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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:
CA156348135
Gene:
Linked Data
dbSNP Id:
rs533450340
gnomAD v2:
7-27337878-TC-T
gnomAD v3:
7-27298259-TC-T
gnomAD v4:
7-27298259-TC-T
MyVariant Identifiers:
chr7:g.27337879del (hg19)
chr7:g.27298260del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.27298260del , CM000669.2:g.27298260del
GRCh38
NC_000007.13:g.27337879del , CM000669.1:g.27337879del
GRCh37
NC_000007.12:g.27304404del
NCBI36
Search 100 bp 5'
Search 100 bp 3'