ClinGen Allele Registry
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Canonical Allele Identifier:
PA109437
Gene: SPTLC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4801
ClinVar RCV Id:
RCV000005068
RCV000235837
RCV001174070
RCV001249799
RCV002326664
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006406.1:p.Val144Asp
CA340288
NM_006415.4:c.431T>A