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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:
CA2557047070
Gene: ABCB1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.87503852del , CM000669.2:g.87503852del
GRCh38
NC_000007.13:g.87133168del , CM000669.1:g.87133168del
GRCh37
NC_000007.12:g.86971104del
NCBI36
NG_011513.1:g.214397del
Transcript Alleles
HGVS
Amino-acid change
ENST00000622132.5:c.*391del
MANE Select
ENSP00000478255.1:n.*391del
ENST00000622132.4:c.*391del
ENSP00000478255.1:n.*391del
NM_001348946.2:c.*391del
MANE Select
NP_001335875.1:n.*391del
NM_000927.5:c.*391del
NP_000918.2:n.*391del
NM_001348944.2:c.*391del
NP_001335873.1:n.*391del
NM_001348945.2:c.*391del
NP_001335874.1:n.*391del
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