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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:
CA803778383
Gene:
Linked Data
dbSNP Id:
rs1289778862
MyVariant Identifiers:
chr5:g.128722560_128722561del (hg19)
chr5:g.129386867_129386868del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.129386867_129386868del , CM000667.2:g.129386867_129386868del
GRCh38
NC_000005.9:g.128722560_128722561del , CM000667.1:g.128722560_128722561del
GRCh37
NC_000005.8:g.128750459_128750460del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_427770.2:n.163-1581_163-1580del
XR_948774.1:n.235-5784_235-5783del
XR_001742463.1:n.4089-1581_4089-1580del
XR_001742464.1:n.2019-5784_2019-5783del
XR_001742465.1:n.401-1581_401-1580del
XR_427770.3:n.337-1581_337-1580del
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