ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3068373450
Gene: CLSTN2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071414.2:p.Ile331Thr
CA2642587
NM_022131.3:c.992T>C