ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916075550
Gene: SPTLC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_847894.1:p.Tyr23Phe
CA373795895
NM_178324.3:c.68A>T