ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3075611019
Gene: CER1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005445.1:p.Ala65Val
CA4989294
NM_005454.3:c.194C>T