ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830049494
Gene: SEC13
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_109598.2:p.Ala115Val
CA2252771
NM_030673.4:c.344C>T