ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3072134448
Gene: SLC22A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003048.1:p.Ser189Leu
CA4083750
NM_003057.3:c.566C>T