ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA102612
Gene: TMEM67
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1387
ClinVar RCV Id:
RCV000001457
RCV000234813
RCV000418247
RCV001389251
RCV002490292
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_714915.3:p.Met252Thr
CA251773
NM_153704.6:c.755T>C