ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA127381
Gene: SLC4A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17759
ClinVar RCV Id:
RCV000019336
RCV001201773
RCV001125390
RCV001125391
RCV001125389
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000333.1:p.Glu658Lys
CA127380
NM_000342.4:c.1972G>A