ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829694616
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
95469
ClinVar RCV Id:
RCV000081495
RCV001328597
RCV000764803
RCV001341723
RCV004542790
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009102.4:p.Pro273Leu
CA223005
NM_007171.4:c.818C>T