ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA263249
Gene: SLC26A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
56012
ClinVar RCV Id:
RCV000049421
RCV001388086
RCV003474627
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000103.2:p.Ala386Val
CA263247
NM_000112.4:c.1157C>T