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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:
PA2573063077
Gene: VWF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288
ClinVar RCV Id:
RCV000000312
RCV000086699
RCV000851989
RCV000851990
RCV000851599
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000543.3:p.Arg1306Trp
CA114123
NM_000552.5:c.3916C>T