ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA320419
Gene: SURF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000196024
RCV000820421
RCV001824677
ClinVar Variation:
215239
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003163.1:p.His271_Leu272dup
CA320417
NM_003172.4:c.813_818dup