ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA322230
Gene: SURF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000699472
RCV001699229
ClinVar Variation:
215226
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003163.1:p.Asn249Asp
CA322228
NM_003172.4:c.745A>G