ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828319458
Gene: MYO7A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
52414
ClinVar RCV:
RCV000036149
RCV000765012
RCV001109455
RCV001109456
RCV001109457
RCV001241133
RCV001275891
ClinVar Variation:
43244
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Arg139Gln
CA132330
NM_001369365.1:c.416G>A