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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:
CA383499279
Gene: VWF
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr12:g.6127791T>C (hg19)
chr12:g.6018625T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.6018625T>C , CM000674.2:g.6018625T>C
GRCh38
NC_000012.11:g.6127791T>C , CM000674.1:g.6127791T>C
GRCh37
NC_000012.10:g.5998052T>C
NCBI36
NG_009072.1:g.111046A>G
NG_009072.2:g.111046A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000261405.10:c.4793A>G
MANE Select
ENSP00000261405.5:p.Glu1598Gly
ENST00000261405.9:c.4793A>G
ENSP00000261405.5:p.Glu1598Gly
ENST00000538635.5:n.421-24691A>G
NM_000552.3:c.4793A>G
NP_000543.2:p.Glu1598Gly
NM_000552.4:c.4793A>G
NP_000543.2:p.Glu1598Gly
NM_000552.5:c.4793A>G
MANE Select
NP_000543.3:p.Glu1598Gly
Search 100 bp 5'
Search 100 bp 3'