ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645486002
Gene: TMEM231
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000422994
RCV001078551
RCV003910004
ClinVar Variation:
287699
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070884.2:p.Ser64Phe
CA8176301
NM_001077416.2:c.191C>T