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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
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Canonical Allele Identifier:
CA1790512041
Gene: ADHFE1
HGNC
NCBI
VXN
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.66469004_66469006delinsCAT , CM000670.2:g.66469004_66469006delinsCAT
GRCh38
NC_000008.10:g.67381239_67381241delinsCAT , CM000670.1:g.67381239_67381241delinsCAT
GRCh37
NC_000008.9:g.67543793_67543795delinsCAT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000648156.1:c.*540-2426_*540-2424delinsCAT
ENSP00000497007.1:n.*540-2426_*540-2424delinsCAT
ENST00000480040.5:n.396-2426_396-2424delinsCAT
(ADHFE1)
ENST00000482608.6:n.250+8539_250+8541delinsCAT
(VXN)
ENST00000519702.5:n.162+8539_162+8541delinsCAT
(VXN)
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