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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
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Canonical Allele Identifier:
CA1247519057
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.41534565_41534566delinsCA , CM000664.2:g.41534565_41534566delinsCA
GRCh38
NC_000002.11:g.41761705_41761706delinsCA , CM000664.1:g.41761705_41761706delinsCA
GRCh37
NC_000002.10:g.41615209_41615210delinsCA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_939996.1:n.181+3160_181+3161delinsTG
XR_939997.1:n.146+3160_146+3161delinsTG
XR_939997.2:n.9529+3160_9529+3161delinsTG
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