ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828121180
Gene: SPG7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
451927
ClinVar RCV Id:
RCV000520300
RCV001066395
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350779.1:p.Thr644Ile
CA397432955
NM_001363850.1:c.1931C>T