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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:
CA868684429
Gene: BARX1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1313523933
MyVariant Identifiers:
chr9:g.96716033del (hg19)
chr9:g.93953751del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.93953751del , CM000671.2:g.93953751del
GRCh38
NC_000009.11:g.96716033del , CM000671.1:g.96716033del
GRCh37
NC_000009.10:g.95755854del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000253968.11:c.224-564del
MANE Select
ENSP00000253968.5:n.224-564del
ENST00000253968.10:c.224-564del
ENSP00000253968.5:n.224-564del
NM_021570.3:c.224-564del
NP_067545.3:n.224-564del
NM_021570.4:c.224-564del
MANE Select
NP_067545.3:n.224-564del
Search 100 bp 5'
Search 100 bp 3'