ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828493579
Gene: DNM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2578048
ClinVar RCV Id:
RCV003325647
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361198.1:p.Asn394Ser
CA375016660
NM_001374269.1:c.1181A>G