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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:
CA552053299
Gene:
Linked Data
dbSNP Id:
rs71666918
gnomAD v2:
4-63424157-G-GAA
gnomAD v3:
4-62558439-G-GAA
gnomAD v4:
4-62558439-G-GAA
MyVariant Identifiers:
chr4:g.63424157_63424158insAA (hg19)
chr4:g.62558439_62558440insAA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.62558446_62558447dup , CM000666.2:g.62558446_62558447dup
GRCh38
NC_000004.11:g.63424164_63424165dup , CM000666.1:g.63424164_63424165dup
GRCh37
NC_000004.10:g.63106759_63106760dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_938814.1:n.161-5398_161-5397dup
Search 100 bp 5'
Search 100 bp 3'