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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:
CA2536618654
Gene: BARX1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.93953732del , CM000671.2:g.93953732del
GRCh38
NC_000009.11:g.96716014del , CM000671.1:g.96716014del
GRCh37
NC_000009.10:g.95755835del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000253968.11:c.224-544del
MANE Select
ENSP00000253968.5:n.224-544del
ENST00000253968.10:c.224-544del
ENSP00000253968.5:n.224-544del
NM_021570.3:c.224-544del
NP_067545.3:n.224-544del
NM_021570.4:c.224-544del
MANE Select
NP_067545.3:n.224-544del
Search 100 bp 5'
Search 100 bp 3'