ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829143941
Gene: CERS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1917315
ClinVar RCV Id:
RCV002598172
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001374371.1:p.His171Tyr
CA404865573
NM_001387442.1:c.511C>T