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: PA658826187

Gene: FUCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 558913

ClinVar RCV Id: RCV000675662 RCV001078564 RCV003953228

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000138.2:p.Arg376Gln	CA686355 NM_000147.5:c.1127G>A