Canonical Allele Identifier: PA1139718576
Gene: SPTA1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003117.2:p.Gln1683His
CA1182438
NM_003126.2:c.5049G>T
CA343028814
NM_003126.2:c.5049G>C