ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA150998
Gene: TMEM67
HGNC
NCBI
Linked Data
ClinVar Variation Id:
126302
ClinVar RCV Id:
RCV000114245
RCV000419164
RCV001079645
RCV001163245
RCV001163246
RCV001163247
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135773.1:p.Pro640Ser
CA150995
NM_001142301.1:c.1918C>T