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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:
CA2691057849
Gene: ABCA1
HGNC
NCBI
Linked Data
gnomAD v4:
9-104928159-GT-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.104928164del , CM000671.2:g.104928164del
GRCh38
NC_000009.11:g.107690445del , CM000671.1:g.107690445del
GRCh37
NC_000009.10:g.106730266del
NCBI36
NG_007981.1:g.4996del
Transcript Alleles
HGVS
Amino-acid change
ENST00000374736.7:c.-318del
ENSP00000363868.3:n.-318del
NM_005502.3:c.-318del
NP_005493.2:n.-318del
XM_011518342.1:c.-381del
XP_011516644.1:n.-381del
XR_930204.1:n.734+254del
XM_011518342.3:c.-381del
XP_011516644.1:n.-381del
XR_930204.2:n.115+254del
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