ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916075904
Gene: FCSK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_659496.2:p.Arg683Cys
CA8143480
NM_145059.2:c.2047C>T