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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:
PA645294385
Gene: F7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
420159
ClinVar RCV Id:
RCV000479479
RCV000779130
RCV001843424
RCV002496859
RCV003147479
RCV003419797
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_062562.1:p.Arg342Gln
CA7060219
NM_019616.4:c.1025G>A