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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:
CA1067727742
Gene:
Linked Data
dbSNP Id:
rs1727049700
gnomAD v3:
4-126075536-CT-C
gnomAD v4:
4-126075536-CT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.126075537del , CM000666.2:g.126075537del
GRCh38
NC_000004.11:g.126996692del , CM000666.1:g.126996692del
GRCh37
NC_000004.10:g.127216142del
NCBI36
Search 100 bp 5'
Search 100 bp 3'