ClinGen Allele Registry
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Canonical Allele Identifier:
PA356166
Gene: SPG7
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
222538
ClinVar RCV:
RCV000206309
RCV000993072
RCV003897449
ClinVar Variation:
220393
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003110.1:p.Ser635Leu
CA350356
NM_003119.4:c.1904C>T