ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3070948358
Gene: SLC26A2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000103.2:p.Val340_Val341del
CA3505368
NM_000112.4:c.1017_1022del