ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580371029
Gene: SLC5A4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055042.1:p.Ser418Leu
CA10199382
NM_014227.3:c.1253C>T