ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828537795
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000384984
RCV000850366
RCV001861343
RCV002470848
RCV003441850
RCV004530476
ClinVar Variation:
365275
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361622.1:p.Asn179del
CA5293373
NM_001374693.1:c.535_537del