ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915993706
Gene: SLC4A11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
338257
ClinVar RCV Id:
RCV000271561
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167561.1:p.Arg180Trp
CA9742303
NM_001174090.2:c.538C>T