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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:
CA2082069322
Gene: ALOX5AP
HGNC
NCBI
Linked Data
dbSNP Id:
rs1951676231
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.30730960_30730963del , CM000675.2:g.30730960_30730963del
GRCh38
NC_000013.10:g.31305097_31305100del , CM000675.1:g.31305097_31305100del
GRCh37
NC_000013.9:g.30203097_30203100del
NCBI36
NG_011963.2:g.22483_22486del
Transcript Alleles
HGVS
Amino-acid change
ENST00000617770.4:c.117-4591_117-4588del
ENSP00000479870.1:n.117-4591_117-4588del
NM_001204406.1:c.117-4591_117-4588del
NP_001191335.1:n.117-4591_117-4588del
NM_001204406.2:c.117-4591_117-4588del
NP_001191335.1:n.117-4591_117-4588del
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