ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825388288
Gene: FKRP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000178354
RCV000314155
RCV000548844
RCV000673934
RCV000674993
RCV002492782
RCV002519121
RCV003469227
RCV003993861
RCV004021118
ClinVar Variation:
197342
282824
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001034974.1:p.Gly196Arg
CA245426
NM_001039885.3:c.586G>A
CA9532174
NM_001039885.3:c.586G>C