ClinGen Allele Registry
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Canonical Allele Identifier:
PA246588
Gene: SMPD1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
195253
ClinVar RCV:
RCV000179323
RCV000259165
RCV001084948
RCV001107857
ClinVar Variation:
198092
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000534.3:p.Pro533Leu
CA246587
NM_000543.5:c.1598C>T