ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827714558
Gene: POMT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000081491
ClinVar Variation:
95465
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340125.1:p.Arg121Thr
CA223001
NM_001353196.2:c.362G>C