ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2499228549
Gene: SLC26A2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001644999
ClinVar Variation:
1027386
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000103.2:p.Asp250Val
CA361706181
NM_000112.4:c.749A>T