Canonical Allele Identifier: PA345035
Gene: SLC6A8 HGNC NCBI
ClinVar RCV:
RCV000055918
ClinVar Variation:
65692
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005620.1:p.Pro544Leu
CA345034
NM_005629.4:c.1631C>T