ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA102632
Gene: TMEM67
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1381
ClinVar RCV Id:
RCV000001449
RCV000201677
RCV001781164
RCV001851546
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_714915.3:p.Phe590Ser
CA210661
NM_153704.6:c.1769T>C