ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139763815
Gene: FKRP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001279354
ClinVar Variation:
991183
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077277.1:p.Tyr182Ser
CA406495536
NM_024301.5:c.545A>C