ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139722658
Gene: POMT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000003397
ClinVar Variation:
3241
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009102.4:p.Leu421del
CA278045
NM_007171.4:c.1260_1262del