ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA293832
Gene: SURF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000128342
RCV000394086
RCV000999265
ClinVar Variation:
139375
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003163.1:p.Asp202His
CA293830
NM_003172.4:c.604G>C