ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645493516
Gene: SLC4A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
323519
ClinVar RCV Id:
RCV000288475
RCV000345874
RCV000401440
RCV001850728
RCV004549702
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000333.1:p.Glu68Lys
CA8600670
NM_000342.4:c.202G>A