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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:
CA1819060004
Gene:
Linked Data
dbSNP Id:
rs1313331575
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.128907081_128907084del , CM000670.2:g.128907081_128907084del
GRCh38
NC_000008.10:g.129919327_129919330del , CM000670.1:g.129919327_129919330del
GRCh37
NC_000008.9:g.129988509_129988512del
NCBI36
Search 100 bp 5'
Search 100 bp 3'