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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:
CA1139325383
Gene:
Linked Data
dbSNP Id:
rs397895386
gnomAD v3:
Y-14130522-CTT-C
gnomAD v4:
Y-14130522-CTT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.14130539_14130540del , CM000686.2:g.14130539_14130540del
GRCh38
NC_000024.9:g.16242419_16242420del , CM000686.1:g.16242419_16242420del
GRCh37
NC_000024.8:g.14751813_14751814del
NCBI36
Search 100 bp 5'
Search 100 bp 3'