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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:
CA812443425
Gene:
Linked Data
dbSNP Id:
rs1211467548
MyVariant Identifiers:
chr5:g.56666552del (hg19)
chr5:g.57370725del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.57370732del , CM000667.2:g.57370732del
GRCh38
NC_000005.9:g.56666559del , CM000667.1:g.56666559del
GRCh37
NC_000005.8:g.56702316del
NCBI36
Search 100 bp 5'
Search 100 bp 3'