ClinGen Allele Registry
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Canonical Allele Identifier:
PA645501265
Gene: POMT2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000285296
RCV000694010
RCV001778879
RCV002288961
RCV002503994
RCV003475906
ClinVar Variation:
285067
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_037514.2:p.Arg99Cys
CA10604988
NM_013382.7:c.295C>T