ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825288606
Gene: SMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
432163
ClinVar RCV Id:
RCV000498689
RCV000665319
RCV001851371
RCV004555866
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001007594.2:p.Gly425Ser
CA379374228
NM_001007593.3:c.1273G>A