ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA216306
Gene: SLC4A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
64508
ClinVar RCV Id:
RCV000054695
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003031.3:p.Ala748Ser
CA216305
NM_003040.4:c.2242G>T