ClinGen Allele Registry
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Canonical Allele Identifier:
PA645408222
Gene: SPG11
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
242046
ClinVar RCV:
RCV000232056
RCV001082129
RCV002374379
RCV003939889
ClinVar Variation:
241598
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079413.3:p.Arg2211His
CA7534056
NM_025137.4:c.6632G>A