ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645417718
Gene: SPTA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
293019
ClinVar RCV Id:
RCV000263914
RCV000319040
RCV000354020
RCV001508912
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003117.2:p.Ile756Thr
CA1183447
NM_003126.2:c.2267T>C