ClinGen Allele Registry
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Canonical Allele Identifier:
PA3063874061
Gene: SPTA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003117.2:p.Ile2265Asn
CA343013528
NM_003126.2:c.6794T>A