ClinGen Allele Registry
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Canonical Allele Identifier:
PA245427
Gene: FKRP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197342
ClinVar RCV Id:
RCV000178354
RCV000548844
RCV000674993
RCV002492782
RCV003993861
ClinVar Variation Id:
282824
ClinVar RCV Id:
RCV000314155
RCV000673934
RCV002519121
RCV003469227
RCV004021118
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077277.1:p.Gly196Arg
CA245426
NM_024301.5:c.586G>A
CA9532174
NM_024301.5:c.586G>C