ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645417829
Gene: SPTA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
292999
ClinVar RCV Id:
RCV000275888
RCV000333458
RCV000385681
RCV000963777
RCV004549641
RCV004021366
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003117.2:p.Arg1056Leu
CA1183155
NM_003126.2:c.3167G>T