ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139723178
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283065
ClinVar RCV Id:
RCV000325563
RCV000800012
RCV003278734
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009102.4:p.Arg621Gln
CA5293827
NM_007171.4:c.1862G>A