ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA127411
Gene: SLC4A1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000019361
RCV000991183
RCV001124275
RCV001126941
RCV001126942
RCV002054448
RCV002247370
RCV004549382
ClinVar Variation:
17783
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000333.1:p.Pro868Leu
CA127410
NM_000342.4:c.2603C>T