ClinGen Allele Registry
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Canonical Allele Identifier:
PA645417617
Gene: SPTA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000311351
RCV000345433
RCV000404400
RCV001850491
ClinVar Variation:
293049
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003117.2:p.Ala259Thr
CA1184041
NM_003126.2:c.775G>A