ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829471949
Gene: SLC4A4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
349541
ClinVar RCV Id:
RCV000326814
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003750.1:p.Ile334Leu
CA10621647
NM_003759.4:c.1000A>C