ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139680020
Gene: SLC4A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000333.1:p.Pro240Leu
CA8600484
NM_000342.4:c.719C>T