ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828537608
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3250
ClinVar RCV Id:
RCV000414180
RCV000694423
RCV002286394
RCV003460409
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361621.1:p.Ala530Thr
CA116114
NM_001374692.1:c.1588G>A