ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830334206
Gene: TMEM67
HGNC
NCBI
Linked Data
ClinVar Variation Id:
461771
ClinVar RCV Id:
RCV000527602
RCV000999054
RCV001420616
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_714915.3:p.Val171Ile
CA4807691
NM_153704.6:c.511G>A