ClinGen Allele Registry
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Canonical Allele Identifier:
PA278661
Gene: MYO7A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000036132
RCV001852746
RCV002482971
RCV003987336
ClinVar Variation:
43228
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000251.3:p.His133Tyr
CA278660
NM_000260.4:c.397C>T