ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573254074
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1377587
ClinVar RCV Id:
RCV001912282
RCV004041105
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009102.4:p.Ser602Leu
CA5293808
NM_007171.4:c.1805C>T