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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:
CA2034424992
Gene: VDR
HGNC
NCBI
Linked Data
dbSNP Id:
rs1946698508
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.47908816del , CM000674.2:g.47908816del
GRCh38
NC_000012.11:g.48302599del , CM000674.1:g.48302599del
GRCh37
NC_000012.10:g.46588866del
NCBI36
NG_008731.1:g.1216del
Transcript Alleles
HGVS
Amino-acid change
ENST00000395324.6:c.-83-26042del
ENSP00000378734.2:n.-83-26042del
Search 100 bp 5'
Search 100 bp 3'