ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825446598
Gene: POMT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000081475
ClinVar Variation:
95450
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070834.1:p.Tyr272Cys
CA222987
NM_001077366.2:c.815A>G