ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830412155
Gene: SEC13
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_899195.1:p.Leu190Phe
CA2252687
NM_183352.3:c.568C>T