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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:
CA928656259
Gene:
Linked Data
dbSNP Id:
rs1837796423
gnomAD v3:
10-55657000-TAAAAAGC-T
gnomAD v4:
10-55657000-TAAAAAGC-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.55657009_55657015del , CM000672.2:g.55657009_55657015del
GRCh38
NC_000010.10:g.57416769_57416775del , CM000672.1:g.57416769_57416775del
GRCh37
NC_000010.9:g.57086775_57086781del
NCBI36
Search 100 bp 5'
Search 100 bp 3'