ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139722741
Gene: POMT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
524386
ClinVar RCV:
RCV000648158
RCV000733057
RCV004544878
ClinVar Variation:
538722
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009102.4:p.Arg466Cys
CA5293658
NM_007171.4:c.1396C>T