ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827613531
Gene: FKTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
435193
ClinVar RCV Id:
RCV000502129
RCV001044462
RCV001755741
RCV004023373
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338430.1:p.Ala38Thr
CA5170425
NM_001351501.2:c.112G>A