ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3078238829
Gene: SLC1A2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004162.2:p.Pro289Leu
CA5947201
NM_004171.4:c.866C>T