ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139718100
Gene: SPTA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003117.2:p.Ala867Glu
CA1183329
NM_003126.2:c.2600C>A