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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:
CA1548072445
Gene:
Linked Data
dbSNP Id:
rs1744929575
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.56736050A>G , CM000667.2:g.56736050A>G
GRCh38
NC_000005.9:g.56031877A>G , CM000667.1:g.56031877A>G
GRCh37
NC_000005.8:g.56067634A>G
NCBI36
Search 100 bp 5'
Search 100 bp 3'