Canonical Allele Identifier: PA1139718471
Gene: SPTA1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003117.2:p.Lys1449Asn
CA1182736
NM_003126.2:c.4347G>T
CA343031277
NM_003126.2:c.4347G>C