ClinGen Allele Registry
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Canonical Allele Identifier:
PA645417987
Gene: SPTA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000263247
RCV000331062
RCV000367083
RCV001248300
ClinVar Variation:
292988
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003117.2:p.Ser1314Pro
CA1182881
NM_003126.2:c.3940T>C