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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:
CA2575054236
Gene: VWF
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.6072270del , CM000674.2:g.6072270del
GRCh38
NC_000012.11:g.6181436del , CM000674.1:g.6181436del
GRCh37
NC_000012.10:g.6051697del
NCBI36
NG_009072.1:g.57403del
NG_009072.2:g.57403del
Transcript Alleles
HGVS
Amino-acid change
ENST00000261405.10:c.1109+63del
MANE Select
ENSP00000261405.5:n.1109+63del
ENST00000261405.9:c.1109+63del
ENSP00000261405.5:n.1109+63del
ENST00000538635.5:n.420+38247del
NM_000552.3:c.1109+63del
NP_000543.2:n.1109+63del
NM_000552.4:c.1109+63del
NP_000543.2:n.1109+63del
NM_000552.5:c.1109+63del
MANE Select
NP_000543.3:n.1109+63del
Search 100 bp 5'
Search 100 bp 3'