ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645417918
Gene: SPTA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003117.2:p.Val1233Ile
CA1182969
NM_003126.2:c.3697G>A