Canonical Allele Identifier: PA2825852442
Gene: SLC6A8 HGNC NCBI
ClinVar RCV:
RCV000055918
ClinVar Variation:
65692
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136277.1:p.Pro534Leu
CA345034
NM_001142805.2:c.1601C>T