ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916075550
Gene: SPTLC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450572
ClinVar RCV Id:
RCV000522579
RCV001267702
RCV003152607
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_847894.1:p.Tyr23Phe
CA373795895
NM_178324.3:c.68A>T