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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:
CA2123683212
Gene: LINC00596
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23912353_23912373delinsGGACCTTTGACCTGCAGAACT , CM000676.2:g.23912353_23912373delinsGGACCTTTGACCTGCAGAACT
GRCh38
NC_000014.8:g.24381562_24381582delinsGGACCTTTGACCTGCAGAACT , CM000676.1:g.24381562_24381582delinsGGACCTTTGACCTGCAGAACT
GRCh37
NC_000014.7:g.23451402_23451422delinsGGACCTTTGACCTGCAGAACT
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_429343.2:n.179-9661_179-9641delinsAGTTCTGCAGGTCAAAGGTCC
XR_001750659.1:n.196-9661_196-9641delinsAGTTCTGCAGGTCAAAGGTCC
XR_429343.3:n.196-9661_196-9641delinsAGTTCTGCAGGTCAAAGGTCC
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