ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573073202
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
507515
ClinVar RCV Id:
RCV000610404
RCV002062955
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361618.1:p.Pro208Ala
CA5293389
NM_001374689.1:c.622C>G