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: PA645453571

Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 289722

ClinVar RCV Id: RCV000356554 RCV000469653 RCV002374484 RCV000765454 RCV001273518

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_077277.1:p.Gly302Ser	CA9532208 NM_024301.5:c.904G>A