ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658662167
Gene: POMT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009102.3:p.Ser505Asn
CA5293697
NM_007171.3:c.1514G>A