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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:
CA2343724691
Gene: NLRP5
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.55989711_55989713delinsTTC , CM000681.2:g.55989711_55989713delinsTTC
GRCh38
NC_000019.9:g.56501077_56501079delinsTTC , CM000681.1:g.56501077_56501079delinsTTC
GRCh37
NC_000019.8:g.61192889_61192891delinsTTC
NCBI36
NG_046924.1:g.7929_7931delinsTTC
NG_051553.1:g.46880_46882delinsTTC
Transcript Alleles
HGVS
Amino-acid change
XM_011526444.1:c.-72+2890_-72+2892delinsTTC
XP_011524746.1:n.-72+2890_-72+2892delinsTTC
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