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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:
CA1300258858
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.155870729_155870730delinsTC , CM000664.2:g.155870729_155870730delinsTC
GRCh38
NC_000002.11:g.156727241_156727242delinsTC , CM000664.1:g.156727241_156727242delinsTC
GRCh37
NC_000002.10:g.156435487_156435488delinsTC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_923501.1:n.320-3543_320-3542delinsGA
XR_001739749.1:n.331-29746_331-29745delinsGA
XR_001739750.1:n.331-29746_331-29745delinsGA
XR_001739751.1:n.331-29746_331-29745delinsGA
XR_923501.2:n.331-3543_331-3542delinsGA
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