ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139718533
Gene: SPTA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003117.2:p.Phe1621Tyr
CA1182538
NM_003126.2:c.4862T>A