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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:
CA737018792
Gene:
Linked Data
dbSNP Id:
rs1167085459
gnomAD v3:
1-55030416-CA-C
gnomAD v4:
1-55030416-CA-C
MyVariant Identifiers:
chr1:g.55496090del (hg19)
chr1:g.55030417del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.55030417del , CM000663.2:g.55030417del
GRCh38
NC_000001.10:g.55496090del , CM000663.1:g.55496090del
GRCh37
NC_000001.9:g.55268678del
NCBI36
Search 100 bp 5'
Search 100 bp 3'