ClinGen Allele Registry
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Canonical Allele Identifier:
PA645417702
Gene: SPTA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
249461
ClinVar RCV:
RCV000249178
RCV000268090
RCV000323182
RCV000381211
RCV000756691
ClinVar Variation:
258918
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003117.2:p.Tyr653Cys
CA1183560
NM_003126.2:c.1958A>G