ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA116702
Gene: FKRP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000004442
RCV000082182
RCV000231711
RCV000503787
RCV000515332
RCV000612115
RCV000626960
RCV000660622
RCV001197775
RCV001329320
RCV001526640
RCV002222338
RCV002408451
RCV003993736
RCV004532287
ClinVar Variation:
4221
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077277.1:p.Leu276Ile
CA116701
NM_024301.5:c.826C>A