ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139722841
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
856405
ClinVar RCV Id:
RCV001061860
RCV003132198
RCV002553908
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009102.4:p.Tyr502Cys
CA5293694
NM_007171.4:c.1505A>G