ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827715946
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_001340127.2:p.Leu367del
CA278045
NM_001353198.2:c.1098_1100del