ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828121171
Gene: SPG7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
220393
ClinVar RCV Id:
RCV000206309
RCV000993072
RCV003897449
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350779.1:p.Ser635Leu
CA350356
NM_001363850.1:c.1904C>T