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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:
CA1139144471
Gene:
Linked Data
dbSNP Id:
rs2053027095
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.11996287del , CM000686.2:g.11996287del
GRCh38
NC_000024.9:g.14116993del , CM000686.1:g.14116993del
GRCh37
NC_000024.8:g.12626993del
NCBI36
Search 100 bp 5'
Search 100 bp 3'