ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828290650
Gene: MYO6
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000038280
RCV000271910
RCV000382776
RCV000488280
RCV000787984
RCV004534809
ClinVar Variation:
45131
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355794.1:p.Ala342Val
CA135587
NM_001368865.1:c.1025C>T