ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645417627
Gene: SPTA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
293045
ClinVar RCV Id:
RCV000273376
RCV000328361
RCV000365672
RCV000955255
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003117.2:p.Pro285Thr
CA1183992
NM_003126.2:c.853C>A