ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580221915
Gene: SMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2155669
ClinVar RCV Id:
RCV003090728
RCV003404064
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001352064.1:p.Pro332His
CA5852725
NM_001365135.1:c.995C>A