ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825816191
Gene: POMT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000003410
ClinVar Variation:
3254
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129586.1:p.Met23del
CA278048
NM_001136114.2:c.67_69del