Canonical Allele Identifier: PA2828169389
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2952378
ClinVar RCV Id: RCV003815529
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001352064.1:p.Tyr398del
CA379374518
NM_001365135.1:c.1191T>A
CA379374521
NM_001365135.1:c.1191T>G
CA379374539
NM_001365135.1:c.1194C>A
CA379374543
NM_001365135.1:c.1194C>G
CA2740093612
NM_001365135.1:c.1191_1193del