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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:
CA2360680849
Gene: BPIFB1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1979910352
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.33275228_33275229del , CM000682.2:g.33275228_33275229del
GRCh38
NC_000020.10:g.31863034_31863035del , CM000682.1:g.31863034_31863035del
GRCh37
NC_000020.9:g.31326695_31326696del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000423645.5:c.-42+1574_-42+1575del
ENSP00000390471.1:n.-42+1574_-42+1575del
XM_024452018.1:c.-295+1574_-295+1575del
XP_024307786.1:n.-295+1574_-295+1575del
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