ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139702803
Gene: SURF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
913647
ClinVar RCV Id:
RCV001167392
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003163.1:p.Ala236Thr
CA200832355
NM_003172.4:c.706G>A