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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:
CA2580101783
Gene: ABCD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2022340
ClinVar RCV Id:
RCV002875576
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.153737155_153737167del , CM000685.2:g.153737155_153737167del
GRCh38
NC_000023.10:g.153002609_153002621del , CM000685.1:g.153002609_153002621del
GRCh37
NC_000023.9:g.152655803_152655815del
NCBI36
NG_009022.2:g.17288_17300del
Transcript Alleles
HGVS
Amino-acid change
ENST00000218104.6:c.1394-2_1404del
ENST00000218104.5:c.1394-2_1404del
ENST00000443684.2:n.397-2_407del
NM_000033.3:c.1394-2_1404del
XR_938507.1:n.1866-2_1876del
XR_938507.2:n.1866-2_1876del
NM_000033.4:c.1394-2_1404del
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