ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580343069
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2420513
ClinVar RCV Id:
RCV003121678
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009102.4:p.Arg635Leu
CA375314148
NM_007171.4:c.1904G>T