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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:
CA1548072412
Gene:
Linked Data
dbSNP Id:
rs1744928650
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.56735953del , CM000667.2:g.56735953del
GRCh38
NC_000005.9:g.56031780del , CM000667.1:g.56031780del
GRCh37
NC_000005.8:g.56067537del
NCBI36
Search 100 bp 5'
Search 100 bp 3'