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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:
CA551536787
Gene:
Linked Data
dbSNP Id:
rs796931887
gnomAD v2:
4-54938468-C-CAA
gnomAD v3:
4-54072301-C-CAA
gnomAD v4:
4-54072301-C-CAA
MyVariant Identifiers:
chr4:g.54938471_54938472insAA (hg19)
chr4:g.54938468_54938469insAA (hg19)
chr4:g.54072304_54072305insAA (hg38)
chr4:g.54072301_54072302insAA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.54072314_54072315dup , CM000666.2:g.54072314_54072315dup
GRCh38
NC_000004.11:g.54938481_54938482dup , CM000666.1:g.54938481_54938482dup
GRCh37
NC_000004.10:g.54633238_54633239dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000507166.5:c.1018-202611_1018-202610dup
ENSP00000423325.1:n.1018-202611_1018-2026...
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