ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3083957616
Gene: SLC4A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000333.1:p.Pro327His
CA399788677
NM_000342.4:c.980C>A