ClinGen Allele Registry
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Canonical Allele Identifier:
PA213178
Gene: SPTA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000013700
RCV000598724
RCV001336016
RCV001509085
ClinVar Variation:
12847
1163758
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003117.2:p.Leu155dup
CA213176
NM_003126.2:c.460_462dup
CA1184129
NM_003126.2:c.464_466dup