ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA177987
Gene: SLC17A8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
165240
ClinVar RCV Id:
RCV000151878
RCV000839952
RCV004019825
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_647480.1:p.Val104Ile
CA177986
NM_139319.3:c.310G>A