ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139718617
Gene: SPTA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003117.2:p.Arg2079Leu
CA1182039
NM_003126.2:c.6236G>T