ClinGen Allele Registry
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Canonical Allele Identifier:
PA915980969
Gene: MYO7A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
52350
ClinVar RCV:
RCV000036084
RCV000270954
RCV000326027
RCV000383860
RCV000727020
RCV001276689
RCV004018785
ClinVar Variation:
43180
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120652.1:p.Leu765Met
CA132243
NM_001127180.2:c.2293C>A