ClinGen Allele Registry
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Canonical Allele Identifier:
PA645417926
Gene: SPTA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
292989
ClinVar RCV Id:
RCV000259777
RCV000318383
RCV000373123
RCV001356359
RCV004021364
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003117.2:p.Asp1280Gly
CA1182921
NM_003126.2:c.3839A>G