Canonical Allele Identifier: PA2825288623
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_001007594.2:p.Tyr441del
CA379374518
NM_001007593.3:c.1320T>A
CA379374521
NM_001007593.3:c.1320T>G
CA379374539
NM_001007593.3:c.1323C>A
CA379374543
NM_001007593.3:c.1323C>G
CA2740093612
NM_001007593.3:c.1320_1322del