ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645417589
Gene: SPTA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
293057
ClinVar RCV Id:
RCV000266135
RCV000323519
RCV000380383
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003117.2:p.Ile75Thr
CA1184231
NM_003126.2:c.224T>C