ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA095016
Gene: VSX1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000005563
RCV000396085
RCV003934801
ClinVar Variation:
5251
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055403.2:p.Leu17Pro
CA117359
NM_014588.6:c.50T>C