ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA323178
Gene: SURF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
215229
ClinVar RCV Id:
RCV000198640
RCV001853202
RCV004020427
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003163.1:p.Ala14Thr
CA323176
NM_003172.4:c.40G>A