ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094227
Gene: SLC4A11
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000001368
RCV001851538
ClinVar Variation:
1305
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114423.1:p.Ser489Leu
CA250435
NM_032034.4:c.1466C>T