ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828320318
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43187
ClinVar RCV Id:
RCV000036091
RCV000724180
RCV000988606
RCV001110090
RCV001114121
RCV001276694
RCV001526685
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Arg862Trp
CA132257
NM_001369365.1:c.2584C>T