ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580556563
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_937850.1:p.His269Tyr
CA404865573
NM_198207.3:c.805C>T