ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828320173
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43180
ClinVar RCV Id:
RCV000036084
RCV000270954
RCV000383860
RCV000326027
RCV004018785
RCV000727020
RCV001276689
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Leu754Met
CA132243
NM_001369365.1:c.2260C>A