ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139692626
Gene: SLC4A11
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167561.1:p.Arg782Leu
CA408086461
NM_001174090.2:c.2345G>T