ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA116696
Gene: FKRP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001851646
RCV002226438
RCV003144103
RCV003466806
ClinVar Variation:
4218
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077277.1:p.Tyr309Cys
CA116695
NM_024301.5:c.926A>G