ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828109024
Gene: SLC4A11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1305
ClinVar RCV Id:
RCV000001368
RCV001851538
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350674.1:p.Ser435Leu
CA250435
NM_001363745.1:c.1304C>T