ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825388711
Gene: FKRP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
788929
ClinVar RCV:
RCV000985158
ClinVar Variation:
800947
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001034974.1:p.Ala455Val
CA9532303
NM_001039885.3:c.1364C>T