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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:
CA2034424991
Gene: VDR
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.47908815_47908816delinsCT , CM000674.2:g.47908815_47908816delinsCT
GRCh38
NC_000012.11:g.48302598_48302599delinsCT , CM000674.1:g.48302598_48302599delinsCT
GRCh37
NC_000012.10:g.46588865_46588866delinsCT
NCBI36
NG_008731.1:g.1216_1217delinsAG
Transcript Alleles
HGVS
Amino-acid change
ENST00000395324.6:c.-83-26042_-83-26041delinsAG
ENSP00000378734.2:n.-83-26042_-83-26041de...
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