ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828321414
Gene: MYO7A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000036196
RCV000668897
RCV001069199
RCV001826553
RCV003323370
ClinVar Variation:
43291
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Arg1824Trp
CA278686
NM_001369365.1:c.5470C>T