ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA202829
Gene: FKRP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
96115
ClinVar RCV Id:
RCV000082183
RCV000178344
RCV001050280
RCV003466994
RCV003987356
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077277.1:p.Thr314Met
CA202828
NM_024301.5:c.941C>T