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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:
CA1608775700
Gene: BMP6
HGNC
NCBI
Linked Data
dbSNP Id:
rs1759712308
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.7880986dup , CM000668.2:g.7880986dup
GRCh38
NC_000006.11:g.7881219dup , CM000668.1:g.7881219dup
GRCh37
NC_000006.10:g.7826218dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000283147.7:c.*643dup
MANE Select
ENSP00000283147.6:n.*643dup
ENST00000283147.6:c.*643dup
ENSP00000283147.6:n.*643dup
NM_001718.4:c.*643dup
NP_001709.1:n.*643dup
NM_001718.5:c.*643dup
NP_001709.1:n.*643dup
NM_001718.6:c.*643dup
MANE Select
NP_001709.1:n.*643dup
Search 100 bp 5'
Search 100 bp 3'