ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825317678
Gene: FAM53A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV004150583
ClinVar Variation:
2302741
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001013644.1:p.Leu343Phe
CA2807690
NM_001013622.3:c.1027C>T