ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830023107
Gene: FKRP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3227829
ClinVar RCV Id:
RCV004517578
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077277.1:p.Ala161Thr
CA406495409
NM_024301.5:c.481G>A