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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:
CA2360680848
Gene: BPIFB1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.33275225_33275227delinsACT , CM000682.2:g.33275225_33275227delinsACT
GRCh38
NC_000020.10:g.31863031_31863033delinsACT , CM000682.1:g.31863031_31863033delinsACT
GRCh37
NC_000020.9:g.31326692_31326694delinsACT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000423645.5:c.-42+1571_-42+1573delinsACT
ENSP00000390471.1:n.-42+1571_-42+1573delinsACT
XM_024452018.1:c.-295+1571_-295+1573delinsACT
XP_024307786.1:n.-295+1571_-295+1573delinsACT
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