ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916010716
Gene: SURF1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001267716.1:p.Arg83Trp
CA215067
NM_001280787.1:c.247C>T