ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645425127
Gene: SLC17A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
357920
ClinVar RCV Id:
RCV000332192
RCV001095269
RCV004544679
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036566.1:p.Ala478Thr
CA3890255
NM_012434.5:c.1432G>A