ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA205983
Gene: FKRP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
137380
ClinVar RCV Id:
RCV000456138
RCV000192864
RCV001275320
RCV001093246
RCV002336274
RCV004530080
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077277.1:p.Val393Ile
CA205982
NM_024301.5:c.1177G>A