Canonical Allele Identifier: PA2826978507
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2179174
ClinVar RCV Id: RCV002591782
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305016.1:p.Val36Leu
CA5852483
NM_001318087.2:c.106G>C
CA217298983
NM_001318087.2:c.106G>T