ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830076942
Gene: SLC4A11
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001136922
ClinVar Variation:
895054
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114423.1:p.Arg755Leu
CA408086461
NM_032034.4:c.2264G>T