ClinGen Allele Registry
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Canonical Allele Identifier:
PA645417701
Gene: SPTA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
293029
ClinVar RCV Id:
RCV000270128
RCV000305247
RCV000360076
RCV000958506
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003117.2:p.Asp606Gly
CA1183620
NM_003126.2:c.1817A>G