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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:
CA2343724705
Gene: NLRP5
HGNC
NCBI
Linked Data
dbSNP Id:
rs1981043331
gnomAD v3:
19-55989731-A-AT
gnomAD v4:
19-55989731-A-AT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.55989736dup , CM000681.2:g.55989736dup
GRCh38
NC_000019.9:g.56501102dup , CM000681.1:g.56501102dup
GRCh37
NC_000019.8:g.61192914dup
NCBI36
NG_046924.1:g.7954dup
NG_051553.1:g.46905dup
Transcript Alleles
HGVS
Amino-acid change
XM_011526444.1:c.-72+2915dup
XP_011524746.1:n.-72+2915dup
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