Allele Registry

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.

Canonical Allele Identifier: PA2826500801

Gene: F7 HGNC NCBI

Linked Data

ClinVar Variation Id: 420159

ClinVar RCV Id: RCV000479479 RCV000779130 RCV001843424 RCV002496859 RCV003147479 RCV003419797

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001254483.1:p.Arg280Gln	CA7060219 NM_001267554.1:c.839G>A