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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:
CA1581765799
Gene:
Linked Data
dbSNP Id:
rs1758559244
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.129386860_129386869del , CM000667.2:g.129386860_129386869del
GRCh38
NC_000005.9:g.128722553_128722562del , CM000667.1:g.128722553_128722562del
GRCh37
NC_000005.8:g.128750452_128750461del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_427770.2:n.163-1588_163-1579del
XR_948774.1:n.235-5791_235-5782del
XR_001742463.1:n.4089-1588_4089-1579del
XR_001742464.1:n.2019-5791_2019-5782del
XR_001742465.1:n.401-1588_401-1579del
XR_427770.3:n.337-1588_337-1579del
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