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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:
CA559737086
Gene:
Linked Data
dbSNP Id:
rs1039299167
gnomAD v2:
5-56044992-A-AT
gnomAD v3:
5-56749165-A-AT
gnomAD v4:
5-56749165-A-AT
MyVariant Identifiers:
chr5:g.56044993_56044994insT (hg19)
chr5:g.56044992_56044993insT (hg19)
chr5:g.56749166_56749167insT (hg38)
chr5:g.56749165_56749166insT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.56749174dup , CM000667.2:g.56749174dup
GRCh38
NC_000005.9:g.56045001dup , CM000667.1:g.56045001dup
GRCh37
NC_000005.8:g.56080758dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'