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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:
CA2579730045
Gene: ABCD1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.153737165del , CM000685.2:g.153737165del
GRCh38
NC_000023.10:g.153002619del , CM000685.1:g.153002619del
GRCh37
NC_000023.9:g.152655813del
NCBI36
NG_009022.2:g.17298del
Transcript Alleles
HGVS
Amino-acid change
ENST00000218104.6:c.1402del
MANE Select
ENSP00000218104.3:p.Val468TrpfsTer?
ENST00000218104.5:c.1402del
ENSP00000218104.3:p.Val468TrpfsTer?
ENST00000443684.2:n.405del
NM_000033.3:c.1402del
NP_000024.2:p.Val468TrpfsTer?
XR_938507.1:n.1874del
XR_938507.2:n.1874del
NM_000033.4:c.1402del
MANE Select
NP_000024.2:p.Val468TrpfsTer?
Search 100 bp 5'
Search 100 bp 3'