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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:
CA803272734
Gene:
Linked Data
dbSNP Id:
rs1387572987
gnomAD v3:
5-1249539-G-GC
gnomAD v4:
5-1249539-G-GC
MyVariant Identifiers:
chr5:g.1249654_1249655insC (hg19)
chr5:g.1249539_1249540insC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1249544dup , CM000667.2:g.1249544dup
GRCh38
NC_000005.9:g.1249659dup , CM000667.1:g.1249659dup
GRCh37
NC_000005.8:g.1302659dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'