ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100354
Gene: MYOZ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
30509
ClinVar RCV Id:
RCV000023466
RCV000024477
RCV000039013
RCV000330572
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057683.1:p.Ile246Met
CA129293
NM_016599.5:c.738A>G