ClinGen Allele Registry
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Canonical Allele Identifier:
PA132338
Gene: MYO7A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000036155
RCV000926624
RCV001526433
RCV001578682
RCV001578683
ClinVar Variation:
43250
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000251.3:p.Ala1540Val
CA132337
NM_000260.4:c.4619C>T