ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645493523
Gene: SLC4A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
255914
ClinVar RCV Id:
RCV000253978
RCV000709888
RCV000756654
RCV001127762
RCV001127763
RCV001127764
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000333.1:p.Arg180His
CA8600562
NM_000342.4:c.539G>A