ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA277793
Gene: TMEM67
HGNC
NCBI
Linked Data
ClinVar Variation Id:
216826
ClinVar RCV Id:
RCV000198666
RCV000201726
RCV000624166
RCV001090385
RCV002283466
RCV001814102
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_714915.3:p.Asn242Ser
CA277789
NM_153704.6:c.725A>G