ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828320048
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
242392
ClinVar RCV Id:
RCV000674391
RCV000763276
RCV001004800
RCV001854837
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Arg646Trp
CA16616838
NM_001369365.1:c.1936C>T