ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA241218
Gene: POMT2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_037514.2:p.Val635Ile
CA241216
NM_013382.7:c.1903G>A