ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828319608
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
306163
ClinVar RCV Id:
RCV000271212
RCV000326285
RCV000365761
RCV001243912
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Arg281Trp
CA6197289
NM_001369365.1:c.841C>T