ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645418160
Gene: SPTA1
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_003117.2:p.Gln2378Ter
NM_003126.2:c.7132C>T