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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:
CA136959452
Gene:
Linked Data
dbSNP Id:
rs1554136027
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.32602575del , CM000668.2:g.32602575del
GRCh38
NC_000006.11:g.32570352del , CM000668.1:g.32570352del
GRCh37
NC_000006.10:g.32678330del
NCBI36
Search 100 bp 5'
Search 100 bp 3'