ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828321504
Gene: MYO7A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000270823
RCV001277330
ClinVar Variation:
282113
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Leu1905Val
CA6198859
NM_001369365.1:c.5713C>G