ClinGen Allele Registry
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Canonical Allele Identifier:
PA223082
Gene: POMT2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
101440
ClinVar RCV:
RCV000303743
RCV000712838
RCV000765180
RCV001084326
RCV001705757
RCV003952518
ClinVar Variation:
95541
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_037514.2:p.Glu78Gln
CA223080
NM_013382.7:c.232G>C