ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139692581
Gene: SLC4A11
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167561.1:p.Thr588Met
CA9741771
NM_001174090.2:c.1763C>T