ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139708534
Gene: SLC6A5
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_004202.4:p.Tyr491Cys
NM_004211.5:c.1472A>G