ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA232189
Gene: FAM53C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
91932
ClinVar RCV Id:
RCV000122490
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129119.1:p.Pro164Ser
CA232188
NM_001135647.2:c.490C>T