ClinGen Allele Registry
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Canonical Allele Identifier:
PA245511
Gene: MYO7A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000214220
RCV000667801
RCV000724417
RCV001832023
ClinVar Variation:
197405
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000251.3:p.Arg1832Trp
CA245510
NM_000260.4:c.5494C>T