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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:
CA1187869884
Gene: AKNAD1
HGNC
NCBI
Linked Data
dbSNP Id:
rs899695348
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.108875055_108875058del , CM000663.2:g.108875055_108875058del
GRCh38
NC_000001.10:g.109417677_109417680del , CM000663.1:g.109417677_109417680del
GRCh37
NC_000001.9:g.109219200_109219203del
NCBI36
NG_028108.1:g.3075_3078del
NG_028108.2:g.4706_4709del
Transcript Alleles
HGVS
Amino-acid change
ENST00000357393.6:c.1-25475_1-25472del
ENSP00000349968.6:n.1-25475_1-25472del
ENST00000357393.5:c.115-25475_115-25472del
ENSP00000349968.5:n.115-25475_115-25472del
XR_001738178.1:n.103+89_103+92del
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