ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645418053
Gene: SPTA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
292979
ClinVar RCV Id:
RCV000268123
RCV000323216
RCV000353537
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003117.2:p.Ala1640Gly
CA1182494
NM_003126.2:c.4919C>G