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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:
CA1507537657
Gene:
Linked Data
dbSNP Id:
rs1739399124
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.160107582_160107583del , CM000666.2:g.160107582_160107583del
GRCh38
NC_000004.11:g.161028734_161028735del , CM000666.1:g.161028734_161028735del
GRCh37
NC_000004.10:g.161248184_161248185del
NCBI36
Search 100 bp 5'
Search 100 bp 3'