ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825815249
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471383
ClinVar RCV Id:
RCV000526210
RCV000732557
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129585.1:p.Asn163Ser
CA5293287
NM_001136113.2:c.488A>G