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: PA2573285594

Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 1461315

ClinVar RCV Id: RCV001983302

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_077277.1:p.Gln225Lys	CA406495781 NM_024301.5:c.673C>A