Canonical Allele Identifier: PA2825288202
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3049324
ClinVar RCV Id: RCV003959174
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Ala42_Leu49dup
CA2740093596
NM_001007593.3:c.120_143dup
CA2790302102
NM_001007593.3:c.124_147dup